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NMSP Week 4/5 > Bones, Joints, and Soft Tissue Part 1 (Dr. Martin) > Flashcards

Bones, Joints, and Soft Tissue Part 1 (Dr. Martin) Flashcards

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1
Q

What is the most common skeletal dysplasia and is a major cause of dwarfism?

A

Achondroplasia

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2
Q

What gene is mutated with achondroplasia?

What is the inheritance pattern?

A

1) FGFR3

2) AD

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3
Q

What is the most common lethal form of dwarfism?

A

Thanatophoric Dysplasia

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4
Q

What physical feature is noteworthy with achondroplasia?

With thanatophoric Dysplasia?

A

1) Normal trunk length

2) Small chest cavity

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5
Q

Osteoporosis or osteopetrosis involves what receptor?

A

LPR5 receptor

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6
Q

Decreases or absent osteoclasts is due to mutations in?

A

RANKL

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7
Q

What is the most common inherited disorder of connective tissue?

A

Type 1 Collagen Disease Osteogenesis Imperfecta

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8
Q

What are mutated with Type 1 Collagen Disease Osteogenesis Imperfecta?

What is the inheritance pattern?

A

1) α1 and α2 chains of type I collagen

2) AD

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9
Q

Which type of Osteogenesis Imperfecta has the worst prognosis in that it is uniformly fatal in utero?

Which has the best prognosis in which they live a normal life span?

A

1) Type II

2) Type I

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10
Q

What is the clinical presentation of Type I collagen disease?

A

1) Fractures during childhood that decrease at puberty
2) Blue sclera
3) Hearing loss
4) Brittle teeth

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11
Q

Type II collagen disease is frequently lethal at or shorty after birth often due to?

A

Respiratory problems

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12
Q

Osteopetrosis aka Marble Bone Disease is due to mutation in what gene that encodes proton pumps on surface of osteoclasts?

This causes what deficiency?

A

1) CLCN7

2) CA2 (carbonic anhydrase

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13
Q

Due to deficient osteoclast activity with osteopetrosis, what do bones lack?

The ends of long bones are bulbous which is known as?

A

1) Medullary canal

2) Erlenmeyer flask deformity

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14
Q

The severe infantile type of osteopetrosis has what inheritance pattern?

What cranial nerve deficits are noted?

A

1) AR

2) Optic atrophy, deafness, facial paralysis

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15
Q

Mucopolysaccharidoses are a group of lysosomal storage diseases which result in mucopolysaccharides from the extracellular matrix accumulating inside?

A

Chondrocytes

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16
Q

What differentiates osteopenia and osteoporosis?

A

1) Osteopenia is characterized by bone mass 1-2.5 SD below the mean
2) Osteoporosis is bone mass at least 2.5 SD below mean

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17
Q

Atraumatic or vertebral compression fractures signifies?

A

Osteoporosis

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18
Q

What are the most common forms of osteoporosis?

A

1) Senile

2) Postmenopausal

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19
Q

Osteoporosis in adolescents girls can occur due to insufficient intake of what?

A

Calcium

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20
Q

Postmenopausal osteoporosis is mostly due to what deficiency?

A

Estrogen deficiency

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21
Q

What is morphologically seen with osteoporosis?

A

Decreased quantity of trabecular bone

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22
Q

Postmenopausal osteoporosis affects bones with increased surface area such as?

A

Cancellous bones of vertebral bodies

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23
Q

What race has an increased risk for osteoporosis?

Eating too much of what can increase the risk?

What environmental factor is common in increasing risk?

Study These Flashcards
A

1) Caucasian
2) Phosphorus (in soda)
3) Smoking

24
Q

What test is used for diagnosis of osteoporosis?

25
What is clinically common to see with osteoporois?
Thoracic and lumbar fractures
26
What causes loss of height in osteoprosis?
Lumbar lordosis and kyphoscoliosis
27
What is characterized by increased but disordered and structurally unsound bone mass?
Paget Disease (osteitis deformans)
28
What bones are most commonly affected with Paget disease?
1) Axial skeleton | 2) Femur
29
What distinct appearance of the skull does Paget disease have on XR?
Cotton Wool
30
What is the hallmark of Paget disease? What appearance does this cause?
1) Mosaic pattern of woven and lamellar bone, seen in the sclerotic phase 2) Jigsaw-puzzlelike with prominent cement lines
31
What complication may occur in long bones in Paget patients? What tumor like condition may develop with Paget disease?
1) Chalk stick type fracture | 2) Sarcoma
32
What levels of serum ALK phosphatase, calcium, and phosphorus with Paget disease?
1) Increased serum ALK phosphatase | 2) Normal calcium and phosphorus
33
Rickets and osteomalacia are due to? Rickets is the disease of what population? Osteomalacia?
1) Vitamin D deficiency 2) Children 3) Adults
34
What hormone plays a central role in calcium homeostasis?
PTH
35
Hyperparathyroidism leads to significant skeletal changes related to unabated activation of?
Osteoclasts
36
What disease is characterized by increased bone cell activity, peri-trabecular fibrosis, and cystic brown tumors? It is a hallmark of?
1) Osteitis fibrosa cystica (von Recklinghausen disease of bone) 2) Severe hyperparathyroidism
37
The decreased production of what secreted factors can lead to renal osteodystrophy?
1) BMP7 2) FGF-23 3) Klotho
38
What type of fracture is characterized by extending only partially through the bone and is common in infants when bones are soft?
Greenstick fracture
39
What type of fracture is characterized by bone breaking skin surface? Which is when bone is fragmented?
1) Compound | 2) Comminuted
40
In the healing of fractures, degranulated platelets and migrating inflammatory cells release what factors to trigger osteoprogenitor cells and stimulate osteoclast and osteoblast activity?
1) PDGF 2) TGF-beta 3) FGF
41
In the healing of fractures, after how long does the soft tissue callus transform into bony callus?
After 2 weeks
42
In the healing of fractures, when the callus is reduced in size, the outline of fractured bone are reestablished as? The healing process is complete with restoration of?
1) Lamellar bone | 2) Medullary cavity
43
What is characterized by infarction of the bone and the marrow?
Osteonecrosis (avascular necrosis)
44
Most cases of osteonecrosis are due to what causes?
1) Fractures | 2) Corticosteroid tx
45
In regards to osteonecrosis what type of infarct causes pain and may lead to secondary osteoarthritis? Which are clinically silent and involve trabecular bone and marrow?
1) Subchondral infarcts | 2) Medullary infarcts
46
What can lead to osteonecrosis of the jawbone?
Bisphosphonate therapy
47
What is characterized as inflammation of bone and marrow secondary to infection? What are the most common causes?
1) Osteomyelitis | 2) Pyogenic bacteria and mycobacteria
48
What is the most common cause of pyogenic osteomyelitis in children?
Bacterial infection reaching the bone via hematogenous spread
49
What bacteria is the most common cause of pyogenic osteomyelitis?
Staph aureus
50
What bacteria is the most common cause of pyogenic osteomyelitis in sickle cell patients?
Salmonella typhi
51
In acute osteomyelitis in kids, what may form and dissect for long distance along the bones surface? What follows this?
1) Subperiosteal abscesses | 2) Sequestrum (dead bone)
52
In infants what can acute osteomyelitis lead to?
Septic or suppurative arthritis
53
With chronic osteomyelitis, what is characterized by newly deposited bone forming a shell of living tissue around the segment of devitalized bone?
Involucrum
54
What histologic findings are associated with mycobacterial osteomyelitis?
1) Caseous necrosis | 2) Granulomas
55
What complication involving the spine occurs in 40% of mycobacterial osteomyelitis cases?
Tuberculosis Spondylitis (Pott Disease)
56
Tuberculosis Spondylitis (Pott Disease) leads to?
Permanent compression spine fractures
57
How can congenital syphilis affect bone? How does acquired syphilis?
1) Saber shin | 2) Saddle nose

NMSP Week 4/5 (13 decks)

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