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Peds COMAT > stats & ethics > Flashcards

stats & ethics Flashcards

1
Q

What is the equation for specificity?

A

True negatives / true negative + false positive

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2
Q

What is the probability that a test will produce a true negative result when used on a population without disease?

A

Specificity

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3
Q

What is the probability that a test will produce a true positive result when used on a population with the disease?

A

Sensitivity

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4
Q

What is the probability that someone who had the disease will test positive?

A

Positive predictive value

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5
Q

What is the equation for positive predictive value?

A

True positive / true positive + false positive

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6
Q

What is the probability that someone who does NOT have a disease will have a negative test result?

A

Negative predictive value

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7
Q

What is the equation for negative predictive value?

A

True negative / true negative + false negative

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8
Q

What does the P value respresent?

A

The chance that the null hypothesis was rejected in error

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9
Q

What P value is significant enough to reject the null hypothesis?

A

<0.05

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10
Q

What type of error occurs when the null hypothesis is rejected in error?

A

Type 1

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11
Q

What type of error occurs when the null hypothesis was NOT rejected but the null hypothesis is not true?

A

Type 2

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12
Q

What number is obtained by adding the sample values and dividing by the size of the sample?

A

Mean

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13
Q

What number is the middle value in which half the data is larger and the other have is smaller?

A

Median

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14
Q

What is the most frequently occurring number in a sample?

A

Mode

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15
Q

What type of study follows persons with risk factors to determine the outcomes?

A

Cohort study

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16
Q

What type of study examined those with a disease and then checks for common risk factors?

A

Case control study

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17
Q

What is an analysis of data from several studies?

A

Meta analysis

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18
Q

Is a 15 y/o who has a child and lives on her own considered an emancipated minor?, why?

A

No - must be older than 16

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19
Q

In a comatose infant, what two lab values are most important in diagnosing inborn error of metabolism ?

A

Ammonia and anion gap

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20
Q

What inborn errors of metabolism should you consider in a patient with high ammonia and no acidosis?

A

Urea cycle defect or transient hyperammonemia

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21
Q

What inborn errors of metabolism would you consider in a patient with high ammonia and metabolic acidosis?

A

Propionic acidemia
Methylmalonic acidemia
Fatty acid oxidation defects

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22
Q

What inborn error of metabolism would you consider in a child with normal serum ammonia and metabolic acidosis?

A

Maple syrup urine disease

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23
Q

What inborn errors of metabolism would you consider in a patient with normal ammonia and normal abg?

A

Aminoacidopathy
Galactosemia
Non Ketotic hyperglycinemia

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24
Q

What is the appropriate treatment in a comatose infant with high ammonia ?

A

If >200, reduce ammonia with benzoate and phenylacetate

If >600, dialysis

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25
Q

What is the normal serum ammonia value in a newborn?

A

<110

26
Q

What is the best initial study in a 2 day old infant with acidosis, kerosine and high ammonia?

A

Measure urine organic acids

27
Q

What should be the first study in an infant who presents with the appearance of sepsis but no fever or other signs of infection?

A

Serum ammonia level

28
Q

What is the first step in managing a patient with organic acidemia?

A

Hydration

29
Q

When would organic acidemias present?

A

First 2 days of life after introduction of protein in the diet

30
Q

What are the similarities and difference between organic acidemias and brain tumors?

A

Both have decreased appetite, falling down and delayed milestones but brain tumors would progressively worsen

31
Q

What happens to the CBC in patients with metabolic acidosis?

A

Suppression of bone marrow with low platelets and WBC count

32
Q

What condition should you expect in an infant with poor feeding, seizure and odor that smells of sweaty feet ?

A

Isovaleric acidemia

33
Q

What is the appropriate treatment for isovaleric acidemia?

A

Protein restriction

34
Q

What are the symptoms of Propionic acidemia?

A

Tachypnea, poor feeding and lethargy

35
Q

What is the treatment for methylmalonic acidemia?

A

Vitamin b12

36
Q

How are fatty acid oxidation defects inherited ?

A

Autosomal recessive

37
Q

What would you consider in a patient who had a brief episode of illness and decreased PO intake followed by hypoglycemia and hepatoma halt?

A

Fatty acid oxidation defects

38
Q

What lab findings would you suspect in a child with defects in fatty acid metabolism?

A

Absence of reducing substances and ketones in the urine

Normal serum amino acids

39
Q

What is the test for definitive diagnosis of fatty acid oxidation defects?

A

Plasma acylcarnitine profile

40
Q

What is the treatment for urea cycle defects?

A

Reduce serum ammonia by reducing protein intake and increasing glucose via IV

41
Q

Which metabolic disorders do NOT present with hepatomegaly?

A

Organic acid defects
Hyperinsulinism
Urea cycle defects

42
Q

Which syndrome should you consider in a patient with hypotonia, dysmorphic features but NO high ammonia?

A

Zellweger syndrome

43
Q

If an infant presents with signs of inborn error of metabolism but has ketonuria, what disease could you rule out?

A

Urea cycle defects

44
Q

What should you consider in a patient with elevated ammonia, hypotonia and coma but no acidosis?

A

Urea cycle defect

45
Q

What would you suspect in a patient who is normal at birth but then develops poor feeding, abdominal distention, hypoglycemia and gram negative sepsis?

A

Galactosemia

46
Q

What laboratory finding would you expect in galactosemia?

A

Non glucose reducing substances in the urine

47
Q

How is definitive diagnosis of galactosemia made?

A

Measuring GALT in RBCs (will be deficient)

48
Q

How are children with galactosemia treated?

A

Galactose free diet

49
Q

What complications can arise with untreated galactosemia?

A

cataracts, intellectual disability or liver disease

50
Q

What should you suspect in a child with seizures after each meal?

A

Inherited fructose intolerance

51
Q

What is the duarte variant?

A

Infants with half the normal amount of GALT…newborn screen may be positive but require more specific testing

52
Q

What is the drug of choice in refractory hypoglycemia in infants?

A

Diazoxide

53
Q

How would you know the difference between Hyperinsulinism and adrenal insufficiency?

A

Both have hypoglycemia but adrenal insufficiency does NOT have ketonuria

54
Q

Why do children with beckwith wiedemann syndrome develop hypoglycemia?

A

Islet cell hyperplasia

55
Q

What should you suspect in a patent with lactic acidosis, alopecia and rash as well as neurological signs?

A

Biotinidase deficiency

56
Q

Which amino acids are elevated in maple syrup urine disease?

A

Valine
Isoleucine
Alloisoleucine (not normal in infants)
Leucine

57
Q

What is the most useful test in an infant with hypoglycemia, seizures and hepatomegaly ?

A

Urine ketones and reducing substances

58
Q

What should you consider in an infant with tachypnea, shallow breathing, lethargy and hypertonicity?

A

Maple syrup urine disease

59
Q

What is the treatment of alcaptonuria?

A

Diet low in phenylalanine and tyrosine

60
Q

What condition results in dark sclerae, cartilage, sweat, cerumen and urine?

A

Alcaptonuria

61
Q

What causes dark urine in patients with alcaptonuria ?

A

Homogentisic acid in urine

62
Q

What is the formula for sensitivity?

A

True positives / true positives + false negatives

Peds COMAT (23 decks)

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