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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
Lab results in osteoporosis
All normal (help distinguish from Osteomalacia)
26
Contraindicated in osteoporosis
Glucocorticoids
27
Imbalance between osteoblast and osteoclast in 60+ y/o; localized involving 1 or 2 bones; not the entire skeleton; could be a viral cause
Paget disease
28
3 stages of Paget's dz
Osteoclastic --> mixed --> only osteoblasts
29
Paget dz
thick, sclerotic bone (mosaic llamelar a
30
Cause of isolated rise in Alkaline Phosphatase
Paget
31
Complications due to Paget
High output cardiac failure (due to AV shunt formations in bone) ** and Osteosarcoma (due to increased osteoblast activity)
32
Infection of bone and marrow; usually bacterial due to hematogenous spread
Osteomyelitis
33
Cause of Osteomyelitis in adults
Open wound bacteremia seeds Epiphysis*
34
Cause of Osteomyelitis in children
Transient bacteremia seeds Metaphysis*
35
Most common cause of Osteomyelitis
S. aureus
36
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)
1) N. gonorrhoea 2) Salmonella 3) Pseudomonas 4) Pasteurella 5) Mycobacterium tuberculosis
37
Clinical features of osteomyelitis
Lytic bone (sequestrum) surrounded by sclerosis on xray; bone pain w/ systemic signs of infection
38
ISCHEMIC necrosis of bone and marrow
Avascular (aseptic) necrosis; due to trauma or fracture leads to lack of blood flow to the area
39
Bisphosphonates can be used for tx of
Paget's dz Osteoporosis it induces apoptosis in osteoclast
40
Collagen is made of Type __ Collagen
Type II collagen
41
Synovium fluid secretes
hyuloronic acid; which lubricates the joints
42
Degenerative Joint Disease
Progressive degeneration of the articular cartilage; due to wear and tear; Risk factors are age, obesity and trauma
43
Both the ___ and ____ joints are involved in the Degenerative Joint Disease
DIP and PIP of fingers; hip, lower lumbar spine
44
Joint pain worsens during the day in *
Degenerative Joint Disease
45
Osteophytes in the DIP and PIP joints - Hubernards and B (thickening of joint)
Degenerative Joint Disease
46
Rheumatoid Arthritis
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
Rheumatoid Arthritis- morning stiffness that improves with activity
RA= morning sickness that improves with activity
48
RA involves ___ joints
inolvement of joints is symmetric; ankles, knees, PIP, fingers, wrist joints.. DIP is SPARED (not in DJD)
49
Rheumatoid Factor
IgM antibodies against the Fc portions of IgG; marker of tissue damage and dz activity
50
Complication of RA
Secondary amyloidosis
51
Seronegative Spondyloarthropathies
Lack of Rhuematoid Factor, Axial Skeleton involvement, HLA- B27 association
52
Bamboo spine- fusion of the lower veretebras seen in
Ankylosing spondyloarthritis
53
Uveitis (redness of eyes) and Aortitis (weakening of wall; risk aneurysm formation, pulling on aortic valve-- develop aortic regurgitation)
Ankylosing spondyloarthritis
54
Reiter syndrome
"Cant see, cant pee, cant climb a tree" = Arthritis, Urethritis, and Conjunctivitis
55
Psoiasis Arthritis
affects DIP of feet and hands; leads to "sausage" fingers
56
Infectious arthritis main causative agents
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
Gout
deposition of MSU (monosodium urate) crystals; due to hyperuricemia (high amts of uric acid in blood)
58
Uric acid is derived from
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
Secondary gout can be due to
1) Leukemia (b/c of increased cell turnover,breaking down more purines) 2) Lesch-Nyhan syndrome 3) Renal insufficiency
60
Salvage pathway
HGPRT enzyme= HypoxanthineGuaninePhosphoRiboTransferase- salvage hypoxanthine and guanine --> decrease amt of hypoxanthine and guanine --> decrease amt of Xanthine --> Uric acid made
61
Lesch Nyhan
Lacking HGPRT enzyme - pts have gout, self mutilation (bite their lips and fingers) and mental retardation
62
Acute Gout
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
Chronic gout
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
Tophi
Tophi (uric acid crystals in soft tissue or joints)
65
Lab findings in gout
Needle shaped crystals w/ NEGATIVE birefringence under polarized light
66
NEGATIVE birefringence under polarized light
When uric acid crystals lay flat, they are YELLOW | lay low --> yelLOW
67
What color are crystals under parallel light?
YeLLow
68
Pseudogout
deposition of Calcium pyrophosphate; Rhomboid shaped crystals w/ weak positive birefringence under polarized light
69
Dermatomyositis
Inflam disorder of the skin and skel muscle | Unknown etiology; some cases are associated w/ gastric carcinoma
70
Dermatomyositis clinical features
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
Malar rash can be seen in
1) Lupus | 2) Dermatomyositis
72
Lab findings Dermatomyositis
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
Tx for Dermatomyositis
Corticosteroids (this is an inflam disorder so it limits the inflam)
74
Polymyositis
Similary to Dermatomyositis but no skin involvement (so no rashes); Has Endomysial inflammation instead of Perimysial inflammation (CD8+ cells) w/ necrotic muscle fibers
75
X linked muscular dystrophy
Get replacement of skeletal muscle by adipose tissue- due to deletions of Dystrophin
76
Disorders due to deletions in dystrophin
X linked muscular dystrophy= Duchenne's muscular dystrophy
77
largest gene in the human genome
Dystrophin gene | it is an anchor molecule; anchors muscle cytoskeleton to extracellular matrix
78
Presentation of Duchenne's
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
Becker Muscular dystrophy
mutation of dystrophin; so some protein is produced- so have a clinically milder dz; replacement of muscle w/ fat and weaker muscles
80
Myasthenia Gravis has antibodies against
autoantibodies against post synaptic ACH receptors at MMJ Muscle weakness WORSENS w/ use; improves w/ rest Sx improve w/ ant- AchE
81
MG features
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
Lambert Eaton Syndrome
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
Lipoma
benign tumor of adipose tissue- most common in adults
84
Liposarcoma
malignant tumor of adipose- most common malignant soft tissue CA ** Lipoblasts are a characteristic cell
85
Lipoblasts are found in ___ cancer
Liposarcoma
86
Rhabdomyoma
benign tumor of skeletal muscle
87
Cardiac rhabdomyoma is associated with *
Tuberous Sclerosis ***
88
Rhabdomyosarcoma
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
Rhabdomyosarcoma - most common sites are
Head and Neck Vagina in young girls (age 5) Rhabdomyoblast- Desmin positive

Pathoma (3 decks)

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