Chapter 18 - Musculoskeletal Flashcards

1
Q

Cause of Achondroplasia?

A

Activating mutation in fibroblast growth factor receptor 3 (AD)

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2
Q

Why are sclera blue in osteogenesis imperfecta?

A

Because thinning scleral collagen reveals underlying choroidal veins.

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3
Q

Common cause of Osteopetrosis?

A

Mutation in Carbonic Anhydrase II that leads to the loss of the acidic microenvironment required for bone resorption.

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4
Q

Common clinical feature of Osteopetrosis?

A

Renal Tubular Acidosis due to decreased reabsorption of bicarb in tubules… Metabolic acidosis.

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5
Q

How to treat Osteopetrosis?

A

Bone marrow transplant (as osteoclasts are derived from MONOCYTES).

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6
Q

Rachitic rosary

A

Common finding in rickets. Due to osteoid deposition at the costochondral junction.

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7
Q

Laboratory findings with Osteomalacia? (calcium, phosphate, PTH, and alkaline phosphatase)

A

Low serum calcium and phosphate. High serum PTH and alkaline phosphatase.

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8
Q

Laboratory findings with Osteoporosis? (calcium, phosphate, PTH, and alkaline phosphatase).

A

ALL NORMAL.

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9
Q

Is Paget’s disease of bone diffuse or local?

A

LOCAL.

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10
Q

Biopsy findings in Paget’s Disease?

A

Mosaic pattern of lamellar bone. Thick, sclerotic bone that fractures easily.

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11
Q

What is the most common cause of isolated elevated Alkaline Phosphatase?

A

Paget’s disease of bone.

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12
Q

Two major complications of Paget’s disease of bone?

A
  1. High-output Cardiac Failure (due to formation of AV shunts in remodeled bone)
  2. Osteosarcoma
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13
Q

Where do osteomyelitis commonly seed in children vs. adults?

A

Children (transient bacteremia) - seed metaphysis.

Adults (open-wound bacteremia) - seed epiphysis.

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14
Q

Most common bacterial cause of osteomyelitis?

A

Staph aureus (but Salmonella in Sickle Cell Disease and Pseudomonas in diabetics/drug users)

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15
Q

Where do osteoma’s most commonly arise and what are the associated with?

A

Most commonly arise on the surface of facial bones.

Associated with Gardner syndrome (familial adenomatous polyposis and osteomas).

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16
Q

Common presentation of Osteoid Osteoma?

A

Bone pain that resolves with aspirin.

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17
Q

Common presentation of osteoblastoma?

A

Larger than osteoid osteoma, arises in vertebrae, and present as bone pain that does not resolve with aspirin.

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18
Q

What can osteochondroma progress onto?

A

Chrondrosarcoma

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19
Q

Risk factors to develop Osteosarcoma?

A

Familial retinoblastoma, Paget disease, and radiation exposure.

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20
Q

Where in the bone does osteosarcoma arise and what cell type is it made of?

A

Arises in the metaphysis of long bones, malignant proliferation of osteoblasts.

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21
Q

“Codman triangle” and destructive mass with sunburst appearance and lifting of the periosteum seen with?

A

Osteosarcoma.

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22
Q

Where do giant cell tumors arise, in what population, and what type of cell? Characteristic imaging?

A

Arise in the epiphysis of young adults, made of multinucleated giant cells. Present as “soap bubble appearance” on x-ray.

23
Q

What type of cells produce Ewing Sarcoma?

A

Neuroectoderm!

24
Q

What translocation is characteristic of Ewing Sarcoma?

A

t(11;22).

25
Q

Where do chondroma’s arise?

A

Medulla of the small bones of the hands and feet.

26
Q

Where do chondrosarcoma’s arise?

A

Medulla of pelvis or central skeleton.

27
Q

What type of lesions are classically seen with metastatic bone cancer and what is the major exception?

A

Classically see lytic lesions. Exception is with prostate cancer, see sclerotic (osteoblastic) lesions.

28
Q

What type of collagen makes up the articular surface of joints?

A

Type II (hyaline)

29
Q

Heberden nodes are located where?

A

DIP

30
Q

Bouchard nodes are located where?

A

PIP

31
Q

RA is associated with which HLA type?

A

HLA-DR4

32
Q

Hallmark lesion of RA?

A

Pannus formation (inflamed granulation tissue)

33
Q

What is Rheumatoid Factor?

A

Fc portion of IgG (see IgM autoantibody against it)

34
Q

What is found on fluid aspirate of RA joints?

A

Neutrophils and high protein.

35
Q

What HLA group is associated with Seronegative Spondyloarthropathies?

A

HLA-B27

36
Q

Three signs of Ankylosing Spondyloarthritis?

A

Arthritis of vertebrae, uveitis, and aortitis (aortic regurg common)

37
Q

Thriad of Reactive Arthritis (Reiter’s)

A

Arthritis, Urethritis, and Conjuctivitis!

38
Q

When do you see “sausage” fingers (arthritis of DIP joints most commonly)

A

Psoriatic arthritis.

39
Q

What type of inflammatory cell do you see in the joints affected by gout?

A

Neutrophils!

40
Q

Type of crystals in gout?

A

Monosodium urate crystals that are needle-shaped with negative birefringence under polarized light.

41
Q

Type of crystals in pseudogout?

A

Calcium pyrophosphate dihydrate (CPPD) crystals that are rhomboid-shaped with weakly positive birefringence under polarized light…

42
Q

What to screen for when having diagnosed dermatomyositis?

A

CARCINOMA (eg. gastric carcinoma)

43
Q

What type of muscle weakness occurs in dermatomyositis?

A

Bilateral PROXIMAL muscle weakness. Distal can develop later.

44
Q

Clinical and lab findings with dermatomyositis?

A

Heliotrope rash/malar rash with red papules on the elbows, knuckles, and knees (Grotton’s papules).

See ANA and Anti-Jo-1, with perimysial inflammation (CD4+) and perifascicular atrophy.

45
Q

Lab findings with polymyositis?

A

Endomysial inflammation (CD8+) with necrotic muscle fibers.

46
Q

What is X-Linked Muscular Dystrophy?

A

Mutation in DYSTROPHIN gene resulting in muscle wasting and replacement by adipose tissue.

47
Q

Classic finding in Myasthenia Gravis?

A

Eye involvement –> ptosis and diplopia

48
Q

Associated symptoms with Myasthenia Gravis?

A

Thymic hyperplasia or Thymoma… Thymectomy improves symptoms!

49
Q

Most common cause of Lambert-Easton Syndrome?

A

Small cell carcinoma of the lung, producing anitbodies against presynaptic calcium channels. EYES USUALLY SPARED.

50
Q

Most common benign soft tissue tumor in adults?

A

Lipoma!

51
Q

Most common malignant soft tissue tumor in adults?

A

Liposarcoma! (made of LIPOBLASTS).

52
Q

What is Cardiac Rhabdomyoma associated with?

A

Tuberous Sclerosis!

53
Q

Most common malignant soft tissue tumor in children? Where are they found?

A

Rhabdomyosarcoma. Often located in the vagina of young girls.

54
Q

What can you stain rhabdomyosarcomas with?

A

DESMIN!!!