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Board Review > 6/10/2014 > Flashcards

6/10/2014 Flashcards

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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
hypotension, JVD, and distant heart sounds
tamponade
26
prerenal insufficiency
low CO, arterioconstriction, low blood volume
27
wire-looping of capillaries
SLE nephritis
28
WAGR
wilms, aniridia, genitourinary malformation, retardation
29
3yo lg unilateral flank mass
wilm's
30
WT1 mutation - blastema primitive glomeruli and tubules.
wilms
31
beckwith weidman
wilms, neonatal hypoglycemia, muscular hemihypertrophy, and organomegaly (including tongue)
32
differentiate interstitial nephritis to glomerulonephritis to pyelonephritis
interstitium, glomeruli, papillae
33
cyclophosphamide
treat NHL, transitional cell carcinoma invading submucosa of bladder
34
associated with transitional cell carcinoma
cyclophosphamide, smoking, acetominophen, arsenic, and chloride
35
hunner's patches
reddened patches seen in interstitial cystitis
36
right lower lobe mass, smoking, chronic cough, weight loss
small celll lung cancer - SIADH
37
potassium shift
emesis = H loss, potassium shift into cells to throw H out = hypokalemis
38
nodular schlerosis with diffuse thickening of BM
diabetes
39
etiology of hyaline arteriosclerosis
essential HTN, chronic adults
40
most common nephrotic syndrome in children next to minimal change
FSGS
41
kidney stones from increased nucleic acid turnover
uric acid
42
bleeding in urine without pain
transitional cell carcinoma
43
B3
niacin
44
B5
pantothenate - CoA
45
B7
Biotin - carboxylase enzymes
46
increased heparan sulfate and alpha-L-iluronidase
hurler
47
optic atrophy with ataxia
metachromatic leukodystrophy
48
optic atrophy without ataxia
Krabbe's
49
in blood of pts suffering from acute intermittent porphyria
porphobilinogen
50
porphyria cutania tarda
uroporphyrin
51
decreased hexosaminidase A
increased ganglioside GM2
52
tay sachs and nieman pick differentiation
ganglioside, DD, onion vs sphingomyelin
53
Lynch syndrome
single strand mismatch repair in G2. colon cancer and cystadenocarcinnoma (non-germcell tumor of ovary)
54
alcohol metabolism reduces
NAD+
55
western, northern, southern blots
protein, RNA, DNA
56
inheritance of NF 2
AD
57
aldose reductase with NADPH
glucose to sorbitol
58
sorbitol dehydrogenase
sorbitol to fructose
59
howell-jolly bodies
seen in splenectomy
60
alpha 1 antitrypsin deficiency
panacinar emphysema - liver lung transplant
61
two external rotators fo the shoulder
infraspinatus, and teres minor (when abducted
62
internal rotation of shoulder
subscapularis, lesser trochanter
63
myokymia
swollen muscle, involuntary eyelid contractions
64
singultus
hiccups
65
CV4
compression of 4th ventricle, still point
66
v spread
separate impacted sutures
67
most sensitive test for acute pancreatitis
lipase
68
Occipital extension vs cranial extension
oa vs cranial
69
Cobb 20-45
OMT, orthotics, PT
70
Cobb 50 - 75
respiratory comp
71
Cobb 75+
cardiovascular
72
11+ symmetrical tender points
fibromyalgia
73
drugs approved for fibromyalgia
duloxetine, milnacipran, pregabalin
74
essential fructosuria vs. fructose intolerance
no fructose accumulation in cells vs accumulation
75
4 hydroxyphenylpyruvate dioxygenase (HPD) deficiency
hereditary tyrosinemia type 3 - retardation, seizures, and ataxia
76
Aminolevulinic acid dehydratase (ALAD) aka porphobilinogen synthase deficiency
lead poisoning - anemia, myalgia/arthralgia, abdominal pain, constipation and neuropsychiatric changes
77
porphyria cutanea tarda
uroporphyrin in
78
cysteine stones
acetazolamide to alkalize urine
79
uric acid stones tx
allopurinol - decrease serum uric acid, Furosemide
80
familial hypercholesterolemia
LDL receptor deficiency
81
most common cause of SCID
adenosine deaminase deficiency
82
tophus
gout nodules
83
phrenic nerve roots
C3-5
84
foramen rotundum
maxilary branch of the facial nerve
85
chapman of pharynx
2nd rib
86
chapman of lower lung
4th intercostal
87
chpman upper lung
3rd intercostal
88
chapman of retinaand conjunctiva
greater tubercle fothe the humerous
89
chapman for neck
medial surgical neck of the humerous
90
chapman of pylorus
lower third of sternum
91
chapman of middle ear
sup medial aspect of clavicle

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