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ABP BOARDS > Things you are bad at > Flashcards

Things you are bad at Flashcards

1
Q

aPTT reflects which pathway

A

intrinsic

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2
Q

findings in coags for anticardiolipin or lupus anticoagulant

A

prolonged aPTT that remains prolonged after mixing studies

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3
Q

Most common cause of newborn hyperammonemia

A

urea cycle defect

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4
Q

ammonia high, normal pH and bicarb

A

urea cycle defect

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5
Q

which CAH is associated with hypertension

A

11 B hydroxylase

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6
Q

most common Congenital adrenal hyperplasia

A

21 hydroxylase

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7
Q

what type of hypersensitivity reaction is serum sicknesss

A

type 3 reaction.

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8
Q

delivery room temperature

A

22-26 C (72-78 F)

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9
Q

5-8 year old with cranual nerve palsy and ataxia acute onsetn

A

brainstem glioma

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10
Q

presentation medullblastoma

A

morning headache, vomiting, lethargy due to hydrocephalus

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11
Q

which vitamin deficiency is seen in neonatal seizures refractory to AEDs

A

vitamin B6

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12
Q

what lab test diagnosis juvenile dermatomyostisit

A

CK elevation, aldolase elevation, LD elevation or AST ALT elevation

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13
Q

liver tumor with elevate AFP

A

hepatoblastoma

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14
Q

what isTay Sachs disease

A

defect in ganglgioside metabolism

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15
Q

inheritance of tay sachs disease

A

autosomal recessive

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16
Q

signs of tay sachs disease

A

progressive neurological deterioration with loss of vision, stmaina and muscle tone. cherry red spot on retina

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17
Q

signs of niemann pick disease

A

hepatosplenomegaly, ataxis, dysarthria and dyphagia

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18
Q

what deficiency causes gaucher disease

A

glucocerebrosidase

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19
Q

signs of gaucher disease

A

hepatosplenomgealy spasticity and seizures

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20
Q

signs of x linked adrenoleukodystrophy

A

male, developmental regression, spasticity and NO hepatosplenomegaly

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21
Q

characteristics of benign epilepsy with centrotemporal spikes

A

facial numbness, twitching, gluttural vocalizations, drooling, dysphasia, difficulty with speech

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22
Q

how does duchenne musuclar dystorphy present on physical exam in shoulders

A

upward displacement of shoulders and abnormal lateral rotation of scapula

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23
Q

which clotting factors are inhibited by warfarin

A

Factors 2,7,9,10 Protein C and S

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24
Q

Fanconi syndrome is what type RTA

A

Type II

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25
Q

acid base of Type II RTA

A

hyperchloremic acidosis with normal anion gap

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26
Q

Which RTA is associated with hyperkalemia, adrenal failure and CAH and DM

A

type 4

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27
Q

findings associated with type 1 RTA

A

nephrlithiasis and nephrocalcinosis and urine pH >5.5

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28
Q

what milk has low levels of folate and kida are at risk of folate deficiency

A

goats milk

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29
Q

what is formed from abnormal budding of tracheal diverticulum in utero

A

bronchogenic cysts

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30
Q

recurrent URI infections in toddler with now a penumothorax- likely cause

A

bronchogenic cysts that ruptured and caused pneumothorax

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31
Q

tapered beak like distal esophagus and loss of peristalsis

A

Achalasia

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32
Q

what does esophageal manometry show for achalasia

A

increased lower esophageal pressure

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33
Q

inheritance chronic granulomatous disease

A

x linked recessive

34
Q

what is the test for someone with recurrent skin infections, pneumonias and episodes lymphadenitis usually from S aureus

A

dihydrorhodamine oxidation test for Chronic granulomatous disease

35
Q

How to calculate fluid deficit 5% 10kg child

A

.05 x mL of weight (10kg=10,000mL).

36
Q

cut off hemoglobin A1c for DM2 treatment with insulin

A

8.5 and greater

37
Q

urine anion gap in GI diarrheal illness

A

negative urine anion gap

38
Q

the measurement of very long chain fatty acids diagnose what

A

peroxisomal disorders

39
Q

21 hydroxylase deficiency presentation in infancy

A

weight loss, dehydration, vomiting. Either clitoromegaly or undescended testes.
hypoNa and hyper K

40
Q

phos and Ca levels in vit D deficient rickets

A

both are low

41
Q

Ca and phos and PTH levels in someone with hypoparathyroidisme

A

low PTH, low CA and high Phos

42
Q

what electrolyte abnormality causes skin to feel doughy

A

hypernatremia

43
Q

findings with 11B hydroxylase deficiency in boy

A

increased penile growth with pubic hair. No growth in testicular size

44
Q

blood pressure in 11b hydroxylase deficiency

A

hypertension

45
Q

acid base of ethylene glycol ingestion

A

high anion gap metabolic acidosis with elevated osmolol gap

46
Q

anorexia can lead to what electrolyte abnrmality that is important for cardiac function

A

hypokalemia

47
Q

other than proteinuria what lab abnormality is present with idiopathic nephrotic syndrome

A

elevated triglycerides and cholesterol

48
Q

listeria outbreaks are associ with eating what

A

uncooked hotdogs and goat cheese

49
Q

serum vs urine levels of copper in wilson disease

A

low serum. high urine

50
Q

pierre robin sequence is seen with which genetic condition

A

stickler syndrome

51
Q

midface hypoplasia, cleft palate, pierre robin sequence, abnormalities of eye and hearing loss

A

stickler syndrome

52
Q

additional screening test after diagnosing myasthenia gravis

A

CT chest to evaluate for thymoma or thymic hyperplasia

53
Q

FeNA in renal AKI

A

greater than 2%

54
Q

FeNA is prerenal AKI

A

less than 1 %

55
Q

what is elevated in Maple syrup urine disease

A

isoleucine, leucine and valine

56
Q

screening for child with history congenital diaphragmatic hernia repair

A

XR annually

57
Q

where is cobalamin absorbed

A

terminal ileum

58
Q

diagnosis of graves is with what test

A

thyrotropin receptor antibody

59
Q

rapid correction of hyponatremia can cause what

A

pontine demyelinosis

60
Q

rapid correction of hypernatremia can cause what

A

cerebral edema from fluid shift into the cells

61
Q

pill ingestion symptoms dilated pupils, hypotension and drowsiness? also what is cure?

A

TCA ingestion. give Nabicarb

62
Q

pheochromocytomas are associated with which genetic conditions

A

von hippel lindau, NF1, MEN type 2

63
Q

taysachs is deficient in what

A

beta hexosaminidase A deficiency

64
Q

taysachs vs gaucher

A

taysachs has regression around 3-6 months and spasticity. Gaucher will have hepatosplenomgealy and anemia + thrombocytopenia. BOTH have cherry red spots

65
Q

Negative Predictive Value

A

True negative divided by true negative+false negative

66
Q

postitive predictive value

A

true positive divided by true positive+false positive

67
Q

treatment epididymitis

A

ceftriaxone +doxy or ceftriaxone+azithro

68
Q

hydronephrosis wihtout ureteral dilation

A

ureteropelvic junction obstruction

69
Q

unilateral hydronephrosis with dilaterion of distal ureter without bladder distention

A

ureterovesical obstruction

70
Q

hydronephrosis with thickened bladder and dilatered posterior urethra

A

posterior urethral valves

71
Q

eye finding in NF2

A

posterior subscapular lens opacity

72
Q

how to diagnose a fatty acid oxidation disorder

A

plasma acylcarnitine profile

73
Q

urine ketones and urinary reducing substances in fatty acid oxidation disorder

A

both are negative

74
Q

what are the amino acid metabolism disorders

A

PKU, tyrosinemia and MSUD

75
Q

ketoacidosis and hyperammonemia tells you its what type disorder

A

organic acidemia

76
Q

very long chain fatty acids diagnose what

A

peroxismal disorders like zellweger

77
Q

MCAD an LCAD are what

A

fatty acid oxidation disorders

78
Q

mutation for primary ciliary dyskinesia

A

DNAH11

79
Q

small tonsils and immunodeficiency

A

x linked agammaglobulinemia- humoral deficiency

80
Q

diuretic use chronically is associate with what abnormality on labwork

A

hyperuricemia

ABP BOARDS (10 decks)

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