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Board Review > 6/10/2014 > Flashcards

6/10/2014 Flashcards

1
Q

heteroplasmy

A

varying proportions of gene mutations in mitochondria - causes variable disease expression.

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2
Q

Fanconi syndrome

A

cystinuria, cystinosis

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3
Q

Type II RTA (proximal)

A

fanconi (cysteinosis), heavy metal poisoning, multiple myeloma

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4
Q

Type I RTA

A

distal

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5
Q

Type IV

A

hyperkalemic - low aldosterone or low response to aldosterone.

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6
Q

marfanoid body habitus

A

fibrillin-1 (FBN-1) defect, Homocysteinuria, MEN2B, spontaneous pneumothorax

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7
Q

death in homocysteinuria

A

atheromas prior to age 30

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8
Q

Iduronate sulfatase

A

deficient in Hunters, abnormal carb breakdown in lysosomes, x-linked

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9
Q

Hurler

A

GAG accumulation in cornea and other parts

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10
Q

glycosaminoglycan accumulation of Hunters

A

dermatan sulfate, heparan sulfate

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11
Q

causes of B3 deficiency

A

carcinoid syndrome, hartnup

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12
Q

B6 deficiency can lead to deficiency of

A

B3

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13
Q

Precursor to B3

A

triptophan

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14
Q

2 causes of orotic acid buildup

A

ornithine transcarbamoylase deficiency (hyperammonemia and decreased BUN), orotic aciduria

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15
Q

megaloblastic anemia uncured by B12 or folate

A

orotic aciduria

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16
Q

B2

A

riboflavin - FAD

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17
Q

B6

A

pyridoxime

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18
Q

B vit of FAD

A

B2

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19
Q

onion skin lysosomes

A

tay-sachs

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20
Q

B1

A

thiamine

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21
Q

decussation of lateral corticospinal tract

A

medulla

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22
Q

anosmia

A

loss of smell - zink overload

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23
Q

BUN:Cr less than 10

A

intrinsic renal failure

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24
Q

BUN:Cr 10-20

A

Normal renal or post renal

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25
Q

hypotension, JVD, and distant heart sounds

A

tamponade

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26
Q

prerenal insufficiency

A

low CO, arterioconstriction, low blood volume

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27
Q

wire-looping of capillaries

A

SLE nephritis

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28
Q

WAGR

A

wilms, aniridia, genitourinary malformation, retardation

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29
Q

3yo lg unilateral flank mass

A

wilm’s

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30
Q

WT1 mutation - blastema primitive glomeruli and tubules.

A

wilms

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31
Q

beckwith weidman

A

wilms, neonatal hypoglycemia, muscular hemihypertrophy, and organomegaly (including tongue)

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32
Q

differentiate interstitial nephritis to glomerulonephritis to pyelonephritis

A

interstitium, glomeruli, papillae

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33
Q

cyclophosphamide

A

treat NHL, transitional cell carcinoma invading submucosa of bladder

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34
Q

associated with transitional cell carcinoma

A

cyclophosphamide, smoking, acetominophen, arsenic, and chloride

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35
Q

hunner’s patches

A

reddened patches seen in interstitial cystitis

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36
Q

right lower lobe mass, smoking, chronic cough, weight loss

A

small celll lung cancer - SIADH

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37
Q

potassium shift

A

emesis = H loss, potassium shift into cells to throw H out = hypokalemis

38
Q

nodular schlerosis with diffuse thickening of BM

39
Q

etiology of hyaline arteriosclerosis

A

essential HTN, chronic adults

40
Q

most common nephrotic syndrome in children next to minimal change

41
Q

kidney stones from increased nucleic acid turnover

42
Q

bleeding in urine without pain

A

transitional cell carcinoma

43
Q

B3

44
Q

B5

A

pantothenate - CoA

45
Q

B7

A

Biotin - carboxylase enzymes

46
Q

increased heparan sulfate and alpha-L-iluronidase

47
Q

optic atrophy with ataxia

A

metachromatic leukodystrophy

48
Q

optic atrophy without ataxia

A

Krabbe’s

49
Q

in blood of pts suffering from acute intermittent porphyria

A

porphobilinogen

50
Q

porphyria cutania tarda

A

uroporphyrin

51
Q

decreased hexosaminidase A

A

increased ganglioside GM2

52
Q

tay sachs and nieman pick differentiation

A

ganglioside, DD, onion vs sphingomyelin

53
Q

Lynch syndrome

A

single strand mismatch repair in G2. colon cancer and cystadenocarcinnoma (non-germcell tumor of ovary)

54
Q

alcohol metabolism reduces

55
Q

western, northern, southern blots

A

protein, RNA, DNA

56
Q

inheritance of NF 2

57
Q

aldose reductase with NADPH

A

glucose to sorbitol

58
Q

sorbitol dehydrogenase

A

sorbitol to fructose

59
Q

howell-jolly bodies

A

seen in splenectomy

60
Q

alpha 1 antitrypsin deficiency

A

panacinar emphysema - liver lung transplant

61
Q

two external rotators fo the shoulder

A

infraspinatus, and teres minor (when abducted

62
Q

internal rotation of shoulder

A

subscapularis, lesser trochanter

63
Q

myokymia

A

swollen muscle, involuntary eyelid contractions

64
Q

singultus

65
Q

CV4

A

compression of 4th ventricle, still point

66
Q

v spread

A

separate impacted sutures

67
Q

most sensitive test for acute pancreatitis

68
Q

Occipital extension vs cranial extension

A

oa vs cranial

69
Q

Cobb 20-45

A

OMT, orthotics, PT

70
Q

Cobb 50 - 75

A

respiratory comp

71
Q

Cobb 75+

A

cardiovascular

72
Q

11+ symmetrical tender points

A

fibromyalgia

73
Q

drugs approved for fibromyalgia

A

duloxetine, milnacipran, pregabalin

74
Q

essential fructosuria vs. fructose intolerance

A

no fructose accumulation in cells vs accumulation

75
Q

4 hydroxyphenylpyruvate dioxygenase (HPD) deficiency

A

hereditary tyrosinemia type 3 - retardation, seizures, and ataxia

76
Q

Aminolevulinic acid dehydratase (ALAD) aka porphobilinogen synthase deficiency

A

lead poisoning - anemia, myalgia/arthralgia, abdominal pain, constipation and neuropsychiatric changes

77
Q

porphyria cutanea tarda

A

uroporphyrin in

78
Q

cysteine stones

A

acetazolamide to alkalize urine

79
Q

uric acid stones tx

A

allopurinol - decrease serum uric acid, Furosemide

80
Q

familial hypercholesterolemia

A

LDL receptor deficiency

81
Q

most common cause of SCID

A

adenosine deaminase deficiency

82
Q

tophus

A

gout nodules

83
Q

phrenic nerve roots

84
Q

foramen rotundum

A

maxilary branch of the facial nerve

85
Q

chapman of pharynx

86
Q

chapman of lower lung

A

4th intercostal

87
Q

chpman upper lung

A

3rd intercostal

88
Q

chapman of retinaand conjunctiva

A

greater tubercle fothe the humerous

89
Q

chapman for neck

A

medial surgical neck of the humerous

90
Q

chapman of pylorus

A

lower third of sternum

91
Q

chapman of middle ear

A

sup medial aspect of clavicle

Board Review (16 decks)

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