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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

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?

A

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

24
Q

What test is used for diagnosis of osteoporosis?

A

DEXA-scan

25
Q

What is clinically common to see with osteoporois?

A

Thoracic and lumbar fractures

26
Q

What causes loss of height in osteoprosis?

A

Lumbar lordosis and kyphoscoliosis

27
Q

What is characterized by increased but disordered and structurally unsound bone mass?

A

Paget Disease (osteitis deformans)

28
Q

What bones are most commonly affected with Paget disease?

A

1) Axial skeleton

2) Femur

29
Q

What distinct appearance of the skull does Paget disease have on XR?

A

Cotton Wool

30
Q

What is the hallmark of Paget disease?

What appearance does this cause?

A

1) Mosaic pattern of woven and lamellar bone, seen in the sclerotic phase
2) Jigsaw-puzzlelike with prominent cement lines

31
Q

What complication may occur in long bones in Paget patients?

What tumor like condition may develop with Paget disease?

A

1) Chalk stick type fracture

2) Sarcoma

32
Q

What levels of serum ALK phosphatase, calcium, and phosphorus with Paget disease?

A

1) Increased serum ALK phosphatase

2) Normal calcium and phosphorus

33
Q

Rickets and osteomalacia are due to?

Rickets is the disease of what population?

Osteomalacia?

A

1) Vitamin D deficiency
2) Children
3) Adults

34
Q

What hormone plays a central role in calcium homeostasis?

A

PTH

35
Q

Hyperparathyroidism leads to significant skeletal changes related to unabated activation of?

A

Osteoclasts

36
Q

What disease is characterized by increased bone cell activity, peri-trabecular fibrosis, and cystic brown tumors?

It is a hallmark of?

A

1) Osteitis fibrosa cystica (von Recklinghausen disease of bone)
2) Severe hyperparathyroidism

37
Q

The decreased production of what secreted factors can lead to renal osteodystrophy?

A

1) BMP7
2) FGF-23
3) Klotho

38
Q

What type of fracture is characterized by extending only partially through the bone and is common in infants when bones are soft?

A

Greenstick fracture

39
Q

What type of fracture is characterized by bone breaking skin surface?

Which is when bone is fragmented?

A

1) Compound

2) Comminuted

40
Q

In the healing of fractures, degranulated platelets and migrating inflammatory cells release what factors to trigger osteoprogenitor cells and stimulate osteoclast and osteoblast activity?

A

1) PDGF
2) TGF-beta
3) FGF

41
Q

In the healing of fractures, after how long does the soft tissue callus transform into bony callus?

A

After 2 weeks

42
Q

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?

A

1) Lamellar bone

2) Medullary cavity

43
Q

What is characterized by infarction of the bone and the marrow?

A

Osteonecrosis (avascular necrosis)

44
Q

Most cases of osteonecrosis are due to what causes?

A

1) Fractures

2) Corticosteroid tx

45
Q

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?

A

1) Subchondral infarcts

2) Medullary infarcts

46
Q

What can lead to osteonecrosis of the jawbone?

A

Bisphosphonate therapy

47
Q

What is characterized as inflammation of bone and marrow secondary to infection?

What are the most common causes?

A

1) Osteomyelitis

2) Pyogenic bacteria and mycobacteria

48
Q

What is the most common cause of pyogenic osteomyelitis in children?

A

Bacterial infection reaching the bone via hematogenous spread

49
Q

What bacteria is the most common cause of pyogenic osteomyelitis?

A

Staph aureus

50
Q

What bacteria is the most common cause of pyogenic osteomyelitis in sickle cell patients?

A

Salmonella typhi

51
Q

In acute osteomyelitis in kids, what may form and dissect for long distance along the bones surface?

What follows this?

A

1) Subperiosteal abscesses

2) Sequestrum (dead bone)

52
Q

In infants what can acute osteomyelitis lead to?

A

Septic or suppurative arthritis

53
Q

With chronic osteomyelitis, what is characterized by newly deposited bone forming a shell of living tissue around the segment of devitalized bone?

A

Involucrum

54
Q

What histologic findings are associated with mycobacterial osteomyelitis?

A

1) Caseous necrosis

2) Granulomas

55
Q

What complication involving the spine occurs in 40% of mycobacterial osteomyelitis cases?

A

Tuberculosis Spondylitis (Pott Disease)

56
Q

Tuberculosis Spondylitis (Pott Disease) leads to?

A

Permanent compression spine fractures

57
Q

How can congenital syphilis affect bone?

How does acquired syphilis?

A

1) Saber shin

2) Saddle nose

NMSP Week 4/5 (13 decks)

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