MSK Flashcards

1
Q

Impaired cartilage proliferation in the growth plate; common cause of dwarfism

A

Achondroplasia

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2
Q

Autosomal Dominant, FGFR3* (fibroblast growth factor receptor 3) Activation Mutation*; leads to overexpression which inhibits growth

A

Achondroplasia

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3
Q

Form of bone formation: formation of a cartilage matrix; which then dies, is mineralized and replaced by bone

A

Endochondral bone formation (ie: long bones of extremities)

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4
Q

formation of bone w/o preexisting cartilage matrix; bone made directly from CT matrix

A

Intermembranous bone formation (Ie: flat bones of the skull and chest)

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5
Q

AD Type I collagen synthesis defect in bone formation

A

Osteogenesis imperfecta

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6
Q

Multiple fractures, Blue sclera; hearing loss are all sx of

A

Osteogenesis imperfecta

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7
Q

Type of collagen present in bone

A

Type I collagen in bONE

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8
Q

Blue sclera in Osteogenesis Imperfecta is due to

A

Thinning of scleral collagen which reveals underlying Choroidal Veins

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9
Q

Hearing loss in Osteogenesis Imperfecta due to

A

bones of middle ear fx easily

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10
Q

Abnormal thickening of bones (resulting in chalk-like bones) is due to poor osteoclast function is seen in

A

Osteopetrosis

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11
Q

Osteopetrosis

A

Inherited defect in bone resorption resulting in abnormally thick, heavy bone that fx easily

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12
Q

Osteopetrosis has mutation in

A

Carbonic Anhydrase II mutation leads to loss of the acidic environment neccesary for bone resorption

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13
Q

Clinical fx of Osteopetrosis

A

Bone Fxs, Anemia, Thrombocytopenia, and Leukopenia - b/c the medullary space w/in the bone where the marrow is is replaced by bone growth ; Vision and Hearing impairment (thickened skull impinges nerves); Hydrocephalus (narrowing of foramen magnum); RENAL TUBULAR ACIDOSIS

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14
Q

Treatment of Osteopetrosis

A

Bone marrow transplant (since osteoclasts, Macrophages of the bone) are derived from Monocytes, which are derived from hematopoesis

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15
Q

Ages for Rickets and Osteomalacia

A

Rickets in children less than 1yr; Osteomalacia in adults

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16
Q

Defective mineralization of an osteoid

A

Rickets and Osteomalacia

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17
Q

Osteoblasts normally make osteoids; which is then mineralized with Calicum and Phosphate to form bone; defective in

A

Rickets and Osteomalacia

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18
Q

Rickets and Osteomalacia is due to low levels of

A

Vitamin D; necessary for absorption of Ca and K

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19
Q

Activation of Vitamin D requires

A

25-hydroxylation by the LIVER; followed by 1-alpha-hydroxylation in the KIDNEYS (proximal tubules)

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20
Q

Vitamin D deficiency in

A

Rickets and Osteomalacia

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21
Q

Vitamin increases absorption of Ca and K from

A

Intestines, Kidneys, and Bone

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22
Q

Features seen in Rickets

A

Pigeon chest deformity, Frontal bossing (enlarged forehead); Rachitic Rosary (osteoid deposition at the osteochondral junction); Bowing of the legs

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23
Q

Lab findings in osteomalacia

A

Low serum Ca, Low serum K, high Alkaline phosphatase, high PTH

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24
Q

Reduction in trabecular bone mass leads to

A

Osteoporosis; porous bones w/ inc fx risk

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25
Q

Lab results in osteoporosis

A

All normal (help distinguish from Osteomalacia)

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26
Q

Contraindicated in osteoporosis

A

Glucocorticoids

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27
Q

Imbalance between osteoblast and osteoclast in 60+ y/o; localized involving 1 or 2 bones; not the entire skeleton; could be a viral cause

A

Paget disease

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28
Q

3 stages of Paget’s dz

A

Osteoclastic –> mixed –> only osteoblasts

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29
Q

Paget dz

A

thick, sclerotic bone (mosaic llamelar a

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30
Q

Cause of isolated rise in Alkaline Phosphatase

A

Paget

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31
Q

Complications due to Paget

A

High output cardiac failure (due to AV shunt formations in bone) ** and Osteosarcoma (due to increased osteoblast activity)

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32
Q

Infection of bone and marrow; usually bacterial due to hematogenous spread

A

Osteomyelitis

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33
Q

Cause of Osteomyelitis in adults

A

Open wound bacteremia seeds Epiphysis*

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34
Q

Cause of Osteomyelitis in children

A

Transient bacteremia seeds Metaphysis*

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35
Q

Most common cause of Osteomyelitis

A

S. aureus

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36
Q

Causes of Osteomyelitis in

1) Sexually active young adults
2) Sickle cell dz pts
3) Diabetic or IV drug users
4) Associated w/ Cat or dog bites/ scratches
5) usually involves the vertebrae (ie Pott’s dz)

A

1) N. gonorrhoea
2) Salmonella
3) Pseudomonas
4) Pasteurella
5) Mycobacterium tuberculosis

37
Q

Clinical features of osteomyelitis

A

Lytic bone (sequestrum) surrounded by sclerosis on xray; bone pain w/ systemic signs of infection

38
Q

ISCHEMIC necrosis of bone and marrow

A

Avascular (aseptic) necrosis; due to trauma or fracture leads to lack of blood flow to the area

39
Q

Bisphosphonates can be used for tx of

A

Paget’s dz
Osteoporosis
it induces apoptosis in osteoclast

40
Q

Collagen is made of Type __ Collagen

A

Type II collagen

41
Q

Synovium fluid secretes

A

hyuloronic acid; which lubricates the joints

42
Q

Degenerative Joint Disease

A

Progressive degeneration of the articular cartilage; due to wear and tear; Risk factors are age, obesity and trauma

43
Q

Both the ___ and ____ joints are involved in the Degenerative Joint Disease

A

DIP and PIP of fingers; hip, lower lumbar spine

44
Q

Joint pain worsens during the day in *

A

Degenerative Joint Disease

45
Q

Osteophytes in the DIP and PIP joints - Hubernards and B (thickening of joint)

A

Degenerative Joint Disease

46
Q

Rheumatoid Arthritis

A

HLA-DR4, AI dz; inflamm of synovium leads to formation of pannus- inflamed granulation tissue (contains myofibroblasts which contract which leads to ankylosis or dragging of joint in different directions)

47
Q

Rheumatoid Arthritis- morning stiffness that improves with activity

A

RA= morning sickness that improves with activity

48
Q

RA involves ___ joints

A

inolvement of joints is symmetric; ankles, knees, PIP, fingers, wrist joints.. DIP is SPARED (not in DJD)

49
Q

Rheumatoid Factor

A

IgM antibodies against the Fc portions of IgG; marker of tissue damage and dz activity

50
Q

Complication of RA

A

Secondary amyloidosis

51
Q

Seronegative Spondyloarthropathies

A

Lack of Rhuematoid Factor, Axial Skeleton involvement, HLA- B27 association

52
Q

Bamboo spine- fusion of the lower veretebras seen in

A

Ankylosing spondyloarthritis

53
Q

Uveitis (redness of eyes) and Aortitis (weakening of wall; risk aneurysm formation, pulling on aortic valve– develop aortic regurgitation)

A

Ankylosing spondyloarthritis

54
Q

Reiter syndrome

A

“Cant see, cant pee, cant climb a tree” = Arthritis, Urethritis, and Conjunctivitis

55
Q

Psoiasis Arthritis

A

affects DIP of feet and hands; leads to “sausage” fingers

56
Q

Infectious arthritis main causative agents

A

1) N gonorrhea (young adults) and most common cause;
2) S aureus- older children, 2nd most common cause
3) Involves a single joint; usually the knee
4) Warm, erythematous joint w/ a limited range of motion
5) Fever, increased WBC, and elevated ESR

57
Q

Gout

A

deposition of MSU (monosodium urate) crystals; due to hyperuricemia (high amts of uric acid in blood)

58
Q

Uric acid is derived from

A

Purine breakdown producs- AMP and GMP (adenine and guanine)

1) Adenine MonoP –> hypoxanthine
2) GMP –> Guanine
3) both broken down to –> Xanthine –> (by Xanthine oxidase) Uric Acid

Hyperuricemia: –> primary gout
overproduction or not excreting enough in the kidneys

59
Q

Secondary gout can be due to

A

1) Leukemia (b/c of increased cell turnover,breaking down more purines)
2) Lesch-Nyhan syndrome
3) Renal insufficiency

60
Q

Salvage pathway

A

HGPRT enzyme= HypoxanthineGuaninePhosphoRiboTransferase- salvage hypoxanthine and guanine –> decrease amt of hypoxanthine and guanine –> decrease amt of Xanthine –> Uric acid made

61
Q

Lesch Nyhan

A

Lacking HGPRT enzyme - pts have gout, self mutilation (bite their lips and fingers) and mental retardation

62
Q

Acute Gout

A

Painful arthritis of the great toe (podagra) (crystals activate the neutrophils) - can be worsened by consuption of Alcohol (byproducts compete w/ UA to be excreted in kidneys) and meat (brings in excess pyrmidines and purines)

63
Q

Chronic gout

A

formation of Tophi (uric acid crystals in soft tissue or joints) Fibrosis around white, chalky deposits
Renal failure- b/c uric acid deposits in kidneys damaging it

64
Q

Tophi

A

Tophi (uric acid crystals in soft tissue or joints)

65
Q

Lab findings in gout

A

Needle shaped crystals w/ NEGATIVE birefringence under polarized light

66
Q

NEGATIVE birefringence under polarized light

A

When uric acid crystals lay flat, they are YELLOW

lay low –> yelLOW

67
Q

What color are crystals under parallel light?

A

YeLLow

68
Q

Pseudogout

A

deposition of Calcium pyrophosphate; Rhomboid shaped crystals w/ weak positive birefringence under polarized light

69
Q

Dermatomyositis

A

Inflam disorder of the skin and skel muscle

Unknown etiology; some cases are associated w/ gastric carcinoma

70
Q

Dermatomyositis clinical features

A

Bilateral PROXIMAL muscle weakness (cant comb hair and climb stairs);
Skin changes:
1) purple discoloration of upper eyelids
2) Malar rash (classically assoc w/ LUPUS)*
3) red papules on elbows, knuckles, and knees

71
Q

Malar rash can be seen in

A

1) Lupus

2) Dermatomyositis

72
Q

Lab findings Dermatomyositis

A

1) increase creatinine kinase (due to muscle breakdown)
2) Positive ANA and anti-Jo-1 antibody
Perimysial inflam- CD4+ T cells; w/ perifasicular atrophy
Treatment= corticosteroids

73
Q

Tx for Dermatomyositis

A

Corticosteroids (this is an inflam disorder so it limits the inflam)

74
Q

Polymyositis

A

Similary to Dermatomyositis but no skin involvement (so no rashes); Has Endomysial inflammation instead of Perimysial inflammation (CD8+ cells) w/ necrotic muscle fibers

75
Q

X linked muscular dystrophy

A

Get replacement of skeletal muscle by adipose tissue- due to deletions of Dystrophin

76
Q

Disorders due to deletions in dystrophin

A

X linked muscular dystrophy= Duchenne’s muscular dystrophy

77
Q

largest gene in the human genome

A

Dystrophin gene

it is an anchor molecule; anchors muscle cytoskeleton to extracellular matrix

78
Q

Presentation of Duchenne’s

A

Proximal weakness at 1 yr of age; progresses to involve distal;
CALF PSEUDOHYPERTROPHY ; as child is learning to walk at 1 age (more force on this muscle, it hypertrophies which is converted from muscle to fat)

Elevated Creatinine Kinase
Death from Cardiac or Respiratory failure (myocardium or diaphragm get involved)

79
Q

Becker Muscular dystrophy

A

mutation of dystrophin; so some protein is produced- so have a clinically milder dz; replacement of muscle w/ fat and weaker muscles

80
Q

Myasthenia Gravis has antibodies against

A

autoantibodies against post synaptic ACH receptors at MMJ
Muscle weakness WORSENS w/ use; improves w/ rest
Sx improve w/ ant- AchE

81
Q

MG features

A

muscle weakness that worsens w/ use; improves w/ rest
Classically involves eyes leading to ptosis and diplopia
** Associated w/ Thymic hyperplasia or Thymoma (sx may improve when thymus is removed)

82
Q

Lambert Eaton Syndrome

A

Autoantibodies against presynaptic Ca channels at NMJ - impairs ACH release
** Paraneoplastic syndrome- due to small cell carcinoma of the lungs
** Proximal muscles are involved; eyes are Spared
** Anti- AchE agents do NOT improve sx
b/c not able to release ACH
** Weakness improves w/ use (more fire nerve, more gradient to force Ca in, so can kick off receptor)
** Eyes are spared
** resolves w/ resection of primary tumor

83
Q

Lipoma

A

benign tumor of adipose tissue- most common in adults

84
Q

Liposarcoma

A

malignant tumor of adipose- most common malignant soft tissue CA
** Lipoblasts are a characteristic cell

85
Q

Lipoblasts are found in ___ cancer

A

Liposarcoma

86
Q

Rhabdomyoma

A

benign tumor of skeletal muscle

87
Q

Cardiac rhabdomyoma is associated with *

A

Tuberous Sclerosis ***

88
Q

Rhabdomyosarcoma

A

malignant tumor of skeletal muscle- miost common malignant soft tissue tumor in children
Rhabdomyoblast is the characteristic cell
Desmin positive
MOST COMMON SITE IS HEAD AND NECK
Vagina is a classic site in young girls *

89
Q

Rhabdomyosarcoma - most common sites are

A

Head and Neck
Vagina in young girls (age 5)
Rhabdomyoblast- Desmin positive