Musculoskeletal Flashcards

1
Q

hereditary disorder of bone growth; mutation of FGFR3; impaired maturation of cartilage that affects all bones; major cause of dwarfism

A

achondroplasia

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2
Q

short stature; shortened proximal extremities; bowed legs; normal torso length; large head to body size; lordotic posture (excessive inward curvature of lumbar vertebrae)

A

achondroplasia

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3
Q

heterogeneous group of heritable connective tissue disorders; mutations in either the COL1A1 or COL1A2 genes, which guide type 1 collagen formation

A

osteogenesis imperfecta

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4
Q

most common and least severe form of osteogenesis imperfecta; opalescent teeth

A

type 1

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5
Q

most severe form of osteogenesis imperfecta

A

type 2

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6
Q

most severe form beyond perinatal period of osteogenesis imperfecta

A

type 3

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7
Q

form of osteogenesis imperfecta where blue sclera fade with age

A

type 4

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8
Q

cortical bone appears attenuated; reduced bone matrix production; bone architecture remains immature throughout life, with woven bone failing to transform to lamellar bone

A

osteogenesis imperfecta

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9
Q

treatment for osteogenesis imperfecta

A

bisphosphonate therapy

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10
Q

hereditary disorder characterized by increased bone density; secondary to defect in osteoclastic function; thickening of cortical bone and sclerosis of cancellous bone

A

osteopetrosis

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11
Q

which form of osteopetrosis?: normocytic anemia; symptoms secondary to cranial nerve pressure; pathologic fracture; skull deformities, hypertelorism; delayed tooth eruption; autosomal recessive

A

infantile (malignant) form

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12
Q

which form of osteopetrosis?: milder, typically detected upon routine radiograph; no anemia; no cranial nerve compression; uncommon pathologic fracture; osteomyelitis; autosomal dominant

A

adult (benign)

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13
Q

numerous osteoclasts; lack of Howship’s lacunae; dense bone formation

A

osteopetrosis

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14
Q

porous bones, reduced bone mass resulting in increased bone fragility; can by primary or secondary to a variety of conditions; most common: senile, post-menopausal

A

osteoporosis

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15
Q

which demographic is most prone to osteoporosis?

A

caucasian females

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16
Q

fractures of vertebrae, pelvis, femur; kyphosis (overcurvature of thoracic vertebrae, hunchback)

A

osteoporosis

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17
Q

disease of bone characterized by abnormal resorption and deposition of bone; unknown etiology; possible viral etiology; recent gene mutations have been identified

A

pagets disease of bone

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18
Q

older individuals; monostotic or polyostotic; thickened, enlarged, and weakened bones; often painful

A

pagets disease

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19
Q

maxilla>mandible; enlarged alveolar ridges; may see spacing of the teeth

A

pagets disease

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20
Q

early - decreased radiodensity and altered trabeculation; later - patchy, sclerotic bone (cotton wool); hypercementosis

A

pagets disease

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21
Q

increased serum alkaline phosphatase; normal calcium and phosphorous levels; elevated urinary hydroxyproline

A

pagets disease

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22
Q

osteoblastic formation and osteoclastic resorption of bone; basophilic reversal lines (mosaic or jigsaw pattern)

A

pagets disease

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23
Q

… develops in about 1% of pagets disease patients

A

osteosarcoma

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24
Q

defective mineralization of bone matrix; due to vitamin D deficiency

A

rickets and osteomalacia

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25
Q

in infancy/childhood; bowing of legs; Rachitic rosary (prominence of the costochondral junction)

A

rickets

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26
Q

in adults; diffuse skeletal pain; susceptibility to bone fracture

A

osteomalacia

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27
Q

one of the most common pathologies affect bone; causes- traumatic, stress (repetitive loading), pathologic (in an area of existing bone disease)

A

fractures

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28
Q

a bony … bridges the fracture

A

callus

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29
Q

inflammation of the bone and marrow; implies infection (most often bacterial); entry of microorganisms (hematogenous spread, extension from a contiguous site, compound fracture)

A

osteomyelitis

30
Q

can be acute or chronic; sequestrum (a detached, necrotic bone fragment) formation

A

osteomyelitis

31
Q

developmental process secondary to a postzygotic mutation in the GNAS 1 gene; typically affects children during the first or second decade

A

fibrous dysplasia

32
Q

slowly growing enlargement of a single bone; frequently involves the jaws; “ground glass” radiograph

A

fibrous dysplasia (monostotic)

33
Q

typically involves the long bones; pathologic fracture, pain, deformity; cafe au lait pigmentation

A

fibrous dysplasia (jaffe-lichtenstein syndrome)

34
Q

polyostotic features; cafe au lait pigmentation; multiple endocrinopathies (sexual precocity, gigantism, etc)

A

fibrous dysplasia (mccune-albright syndrome)

35
Q

cellular fibrous stroma; irregular shaped trabeculae of woven bone (Chinese script); skull and jaw lesions mature differently

A

fibrous dysplasia

36
Q

most common primary malignancy of bone (excluding hematopoetic malignancies); tumor cells produce bone matrix (osteoid)

A

osteosarcoma

37
Q

75% of cases occur before age 20; most frequently affect the distal femur/proximal tibia (knee area); fills medullary cavity, breaks through cortex; hematogenous spread to lung

A

osteosarcoma

38
Q

which variant of tumor with chromosomal translocation t(11;22)?: shows neural differentiation

A

PNET

39
Q

which variant of tumor with chromosomal translocation t(11;22)?: undifferentiated

A

Ewing sarcoma

40
Q

children usually age 10-15; painful, enlarging mass; classic “onion skin” periosteal proliferation on radiographs

A

Ewing sarcoma/PNET

41
Q

most common form of skeletal malignancy; in adults, over 75% of bone metastases originate from cancers of: prostate, breast, kidney, lung

A

metastatic disease

42
Q

most common bones involved: vertebrae, pelvis, ribs, skull; radiographic appearance may be radiolucent, radiopaque, or mixed

A

metastatic disease

43
Q

degenerative joint disease; often an inevitable part of aging, but biomechanical factors (weight, strength) contribute

A

osteoarthritis

44
Q

progressive erosion of articular cartilage; increased joint friction; “joint mice” (dislodged fragments of bone and cartilage); osteophytes (excess bone growth at the edges); inflammation is secondary to degeneration

A

osteoarthritis

45
Q

chronic, non-suppurative inflammatory destruction of the joints; unknown etiology; considered an autoimmune condition; associated with certain HLA types

A

rheumatoid arthritis

46
Q

RA-attack against the synovial membrane

A

synovitis

47
Q

RA-reactive fibroblastic and macrophage proliferation

A

pannus

48
Q

collagenase/protease destruction of cartilage and bone with subsequent joint deformation

A

rheumatoid arthritis

49
Q

25-35 years, with males younger; variable involvement from mild involvement to severe pain and deformity (anvil shape); predominantly affects the small joints of the hands and feet; rheumatoid nodules; TMJ involvement about 75%

A

rheumatoid arthritis

50
Q

elevated rheumatoid factor; antinuclear antibodies; elevated erythrocyte sedimentation rate; possible anemia

A

RA

51
Q

hyperplasia of synovial lining cells; hyperemia, edema, mixed perivascular infiltrate; rheumatoid nodules

A

RA

52
Q

hematogenous spread, traumatic implantation, or direct (adjacent) spread of microorganisms; bacterial infections usually cause an acute suppurative arthritis

A

infectious arthritis

53
Q

predisposing factors (immunodeficiency, joint trauma, IV drug abuse); gonococci, staph, strep, H influenzae; salmonella occurs in patients with sickle cell disease

A

infectious arthritis

54
Q

episodes of acute arthritis from precipitation of urates into the joints and soft tissues; increases uric acid in blood

A

gout

55
Q

chronic gout is associated with the development of …, leading to chronic renal failure and death in 20% of those affected

A

nephropathy

56
Q

tophi=large aggregates of urate cyrstals and surrounding granulomatous inflammation; big toe is affected in 90% of cases

A

gout

57
Q

3 major syndromes: progressive muscular atrophy; progressive bulbar palsy; amyotrophic lateral sclerosis (Lou Gehrig’s disease)

A

motor neuron disease

58
Q

motor neuron disease: childhood onset; progressive limb weakness and sensory disturbances; facial muscles spared

A

progressive muscular atrophy

59
Q

motor neuron disease: children and young adults; sensory perceptions normal; begins with difficulty in articulation or swallowing

A

progressive bulbar palsy

60
Q

motor neuron disease: middle age; difficulty walking; spastic quadriparesis; normal senses; increased tendon reflexes; fasciculation of the shoulders and thighs; muscle atrophy and dysfunction of muscles controlled by medulla oblongata

A

ALS

61
Q

… agents may slow the progression of ALS

A

antiglutamate

62
Q

inflammatory disorder of skin and skeletal muscle; it is characterized by a distinctive skin rash that may accompany or precede the onset of muscle disease

A

dermatomyositis

63
Q

classic rash- discoloration of the upper eyelids and periorbital edema; muscle weakness; dysphagia (difficulty swallowing)

A

dermatomyositis

64
Q

perifascicular atrophy and inflammation; treatment consists of immunosuppressive therapy

A

dermatomyositis

65
Q

absence of dystrophin; low IQ, mental retardation; progressive loss of intercostal muscles; respiratory difficulty and death from pneumonia

A

duchenne muscular dystrophy

66
Q

abnormal dystrophin; progresses more slowly than Duchenne, with symptoms developing in later childhood or adolescence; near normal life span

A

becker muscular dystrophy

67
Q

autoimmune disease affecting the Ach receptors of muscle fibers; results in progressive weakness of skeletal muscle; often associated with hyperplasia or thymoma of the thymus gland

A

myasthenia gravis

68
Q

progressive muscle weakness, first apparent in the small muscles of the head and neck; inability to focus, ptosis, diplopia; difficulty chewing, dysphagia, dysarthria, repeated contraction leads to progressive weakness

A

myasthenia gravis

69
Q

degeneration of muscle fibers; elevated serum Ach receptor antibody levels; improved muscle strength after injection of edrophonium

A

myasthenia gravis

70
Q

malignant tumor of skeletal muscle; 3 types: embryonal, alveolar, pleomorphic

A

rhabdomyosarcoma

71
Q

potentially rapidly growing, infiltrative mass; orbit, nasal cavity, nasopharynx

A

rhabdomyosarcoma