Musculoskeletal

Question 1

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

Answer 1

achondroplasia

Question 2

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

Answer 2

achondroplasia

Question 3

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

Answer 3

osteogenesis imperfecta

Question 4

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

Answer 4

type 1

Question 5

most severe form of osteogenesis imperfecta

Answer 5

type 2

Question 6

most severe form beyond perinatal period of osteogenesis imperfecta

Answer 6

type 3

Question 7

form of osteogenesis imperfecta where blue sclera fade with age

Answer 7

type 4

Question 8

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

Answer 8

osteogenesis imperfecta

Question 9

treatment for osteogenesis imperfecta

Answer 9

bisphosphonate therapy

Question 10

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

Answer 10

osteopetrosis

Question 11

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

Answer 11

infantile (malignant) form

Question 12

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

Answer 12

adult (benign)

Question 13

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

Answer 13

osteopetrosis

Question 14

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

Answer 14

osteoporosis

Question 15

which demographic is most prone to osteoporosis?

Answer 15

caucasian females

Question 16

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

Answer 16

osteoporosis

Question 17

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

Answer 17

pagets disease of bone

Question 18

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

Answer 18

pagets disease

Question 19

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

Answer 19

pagets disease

Question 20

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

Answer 20

pagets disease

Question 21

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

Answer 21

pagets disease

Question 22

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

Answer 22

pagets disease

Question 23

… develops in about 1% of pagets disease patients

Answer 23

osteosarcoma

Question 24

defective mineralization of bone matrix; due to vitamin D deficiency

Answer 24

rickets and osteomalacia

Question 25

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

Answer 25

rickets

Question 26

in adults; diffuse skeletal pain; susceptibility to bone fracture

Answer 26

osteomalacia

Question 27

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

Answer 27

fractures

Question 28

a bony ... bridges the fracture

Answer 28

callus

Question 29

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

Answer 29

osteomyelitis

Question 30

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

Answer 30

osteomyelitis

Question 31

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

Answer 31

fibrous dysplasia

Question 32

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

Answer 32

fibrous dysplasia (monostotic)

Question 33

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

Answer 33

fibrous dysplasia (jaffe-lichtenstein syndrome)

Question 34

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

Answer 34

fibrous dysplasia (mccune-albright syndrome)

Question 35

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

Answer 35

fibrous dysplasia

Question 36

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

Answer 36

osteosarcoma

Question 37

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

Answer 37

osteosarcoma

Question 38

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

Answer 38

PNET

Question 39

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

Answer 39

Ewing sarcoma

Question 40

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

Answer 40

Ewing sarcoma/PNET

Question 41

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

Answer 41

metastatic disease

Question 42

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

Answer 42

metastatic disease

Question 43

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

Answer 43

osteoarthritis

Question 44

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

Answer 44

osteoarthritis

Question 45

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

Answer 45

rheumatoid arthritis

Question 46

RA-attack against the synovial membrane

Answer 46

synovitis

Question 47

RA-reactive fibroblastic and macrophage proliferation

Answer 47

pannus

Question 48

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

Answer 48

rheumatoid arthritis

Question 49

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%

Answer 49

rheumatoid arthritis

Question 50

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

Answer 50

RA

Question 51

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

Answer 51

RA

Question 52

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

Answer 52

infectious arthritis

Question 53

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

Answer 53

infectious arthritis

Question 54

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

Answer 54

gout

Question 55

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

Answer 55

nephropathy

Question 56

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

Answer 56

gout

Question 57

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

Answer 57

motor neuron disease

Question 58

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

Answer 58

progressive muscular atrophy

Question 59

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

Answer 59

progressive bulbar palsy

Question 60

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

Answer 60

ALS

Question 61

... agents may slow the progression of ALS

Answer 61

antiglutamate

Question 62

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

Answer 62

dermatomyositis

Question 63

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

Answer 63

dermatomyositis

Question 64

perifascicular atrophy and inflammation; treatment consists of immunosuppressive therapy

Answer 64

dermatomyositis

Question 65

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

Answer 65

duchenne muscular dystrophy

Question 66

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

Answer 66

becker muscular dystrophy

Question 67

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

Answer 67

myasthenia gravis

Question 68

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

Answer 68

myasthenia gravis

Question 69

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

Answer 69

myasthenia gravis

Question 70

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

Answer 70

rhabdomyosarcoma

Question 71

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

Answer 71

rhabdomyosarcoma