NUR 642 Final Exam Prep Questions and Answers
Screening: sensitivity and specificity
sensitivity: if high have few false negatives
specificity: if high have few false positives
Infant: Bilirubin screen
- universal screening of GA > 35 weeks: total serum bili or transcutaneous bili
- risk factors: jaundice in 1st 24 hrs, <40 weeks GA, hemolysis, family history, exclusively
breastfed, down syndrome
- happens normally due to metabolize of RBC and dehydration
- refer to nomogram for testing
CCHD screening
- testing pulse ox for cardiac congential heart defects at least at 24 hours of birth- allow pda to
close
- look for 5 t's= TET, TAPVC (total anomaloud pulmonary venous return), TGA (transportion of
greater arteries), truncus arteriosus, and tricuspid valve abnormalities
- also HLHS
Newborn blood screen
-all states test for congenital hypothyroidism, PKU, galactosemia, methylmalonic acidemia
(MMA), and sickle cell
- does not confirm need further testing if postive
congenital hypothyroidism
- if caught early and treated can prevent DD
- s/s: lethergy, hoarse cry, feeding problems, constipation, hypotonia, hypothermia, dry skin,
prolonged jaundice, macroglossia, bradycardia- typically dont see for a couple weeks due to
mothers hormones
,- Low T4 and High TSH
- treatment: synthyroid
hyperthyroidism in newborns
- normally due to mothers high levels of TSH
- s/s: IUGR or prematurity, small fontanels, fever, irritability, tachycardia, V/D/A
- Low TSH, elevated T3 and T4
- treat with beta blockers or surgical
Sickle cell disease
- s/s: anemia, infections, pain VOE, splenic sequestration, acute chest, cerebral accidents,
cholecystitis
Thalassemia
production of an abnormal form of hemoglobin that results in destruction of RBCs
- s/s: forehead bossing, box line bones, hepatomegaly, dilated renal tubules, cardiac
abnormalities
- leads to anemia, hyperuricemia, microcytic anemia
- treatment: blood transfusion and folate replacement, eventually BMT needed
Inborn errors of metabolism
mostly because absent enzyme
- can be protein, carb, fat, organelles, or other disorders
- s/s: seizures, lethargy, coma, poor feeding, vomiting, sepsis, hyperammonemia, ketosis,
hypoglycemia, metabolic acidosis, urine odor changes
- long term effects: dd, hypotonia, FTT, cardiomegaly, macro/microcephaly, coarse skin, hair
and eye
- Labs: blood, urine, and second line (plasma amino acids, lactate, urine amino acids, urine
organic acids and urine reducing substances)
Protein metabolisms- inborn errors of metabolism
, 1. amino acid: PKU- poor feeding, lethargy, metabolic acidosis, hyperammonemia,
hypoglycemia, liver dysfunction- need very low protein diet
2. organic acid: MMA- poor feeding, muscular hypotonia, lethargy, coma, metabolic acidosis,
bone marrow expression- need glucose and protein restriction- may need liver transplant
3. urea cycle: OTC- poor feeding, tachypnea, low BUN, hyperammonemia (very high), need
NPO, may need dialysis, protein restriction, or arginine supplement
carbohydrate metabolism- inborn errors of metabolism
Galactosemia
- s/s: GI upset, FTT, jaundice, hepatomegaly, sepsis
- can lead to cataracts and liver cirrhosis, hyperbili, metabolic acidosis
- treat with lactose free soy formula
fat metabolism- inborn errors of metabolism
MCAD
- vomiting, seizures, hepatomegaly, hypoglycemia, hyperammonemia, metabolic acidosis
- treatment: avoiding fasting, high carb diet
organelles metabolism- inborn errors of metabolism
mitochondrial disease
- s/s: cardiomyopathy, heart block, visual changes, liver failure, FTT
- need skeletal muscle biopsy
- treat with vitamins and cofactors
Oral health screening
refer to denist 6 months after 1st tooth eruption, no later than 12 months
- fluoride varnish once every 6 months and every 3 months when increased risk for cavities
Lead screening
- screening at 12 months and possibly 2 month visit or if immigration on arrival
- greater than 5 is risk
Screening: sensitivity and specificity
sensitivity: if high have few false negatives
specificity: if high have few false positives
Infant: Bilirubin screen
- universal screening of GA > 35 weeks: total serum bili or transcutaneous bili
- risk factors: jaundice in 1st 24 hrs, <40 weeks GA, hemolysis, family history, exclusively
breastfed, down syndrome
- happens normally due to metabolize of RBC and dehydration
- refer to nomogram for testing
CCHD screening
- testing pulse ox for cardiac congential heart defects at least at 24 hours of birth- allow pda to
close
- look for 5 t's= TET, TAPVC (total anomaloud pulmonary venous return), TGA (transportion of
greater arteries), truncus arteriosus, and tricuspid valve abnormalities
- also HLHS
Newborn blood screen
-all states test for congenital hypothyroidism, PKU, galactosemia, methylmalonic acidemia
(MMA), and sickle cell
- does not confirm need further testing if postive
congenital hypothyroidism
- if caught early and treated can prevent DD
- s/s: lethergy, hoarse cry, feeding problems, constipation, hypotonia, hypothermia, dry skin,
prolonged jaundice, macroglossia, bradycardia- typically dont see for a couple weeks due to
mothers hormones
,- Low T4 and High TSH
- treatment: synthyroid
hyperthyroidism in newborns
- normally due to mothers high levels of TSH
- s/s: IUGR or prematurity, small fontanels, fever, irritability, tachycardia, V/D/A
- Low TSH, elevated T3 and T4
- treat with beta blockers or surgical
Sickle cell disease
- s/s: anemia, infections, pain VOE, splenic sequestration, acute chest, cerebral accidents,
cholecystitis
Thalassemia
production of an abnormal form of hemoglobin that results in destruction of RBCs
- s/s: forehead bossing, box line bones, hepatomegaly, dilated renal tubules, cardiac
abnormalities
- leads to anemia, hyperuricemia, microcytic anemia
- treatment: blood transfusion and folate replacement, eventually BMT needed
Inborn errors of metabolism
mostly because absent enzyme
- can be protein, carb, fat, organelles, or other disorders
- s/s: seizures, lethargy, coma, poor feeding, vomiting, sepsis, hyperammonemia, ketosis,
hypoglycemia, metabolic acidosis, urine odor changes
- long term effects: dd, hypotonia, FTT, cardiomegaly, macro/microcephaly, coarse skin, hair
and eye
- Labs: blood, urine, and second line (plasma amino acids, lactate, urine amino acids, urine
organic acids and urine reducing substances)
Protein metabolisms- inborn errors of metabolism
, 1. amino acid: PKU- poor feeding, lethargy, metabolic acidosis, hyperammonemia,
hypoglycemia, liver dysfunction- need very low protein diet
2. organic acid: MMA- poor feeding, muscular hypotonia, lethargy, coma, metabolic acidosis,
bone marrow expression- need glucose and protein restriction- may need liver transplant
3. urea cycle: OTC- poor feeding, tachypnea, low BUN, hyperammonemia (very high), need
NPO, may need dialysis, protein restriction, or arginine supplement
carbohydrate metabolism- inborn errors of metabolism
Galactosemia
- s/s: GI upset, FTT, jaundice, hepatomegaly, sepsis
- can lead to cataracts and liver cirrhosis, hyperbili, metabolic acidosis
- treat with lactose free soy formula
fat metabolism- inborn errors of metabolism
MCAD
- vomiting, seizures, hepatomegaly, hypoglycemia, hyperammonemia, metabolic acidosis
- treatment: avoiding fasting, high carb diet
organelles metabolism- inborn errors of metabolism
mitochondrial disease
- s/s: cardiomyopathy, heart block, visual changes, liver failure, FTT
- need skeletal muscle biopsy
- treat with vitamins and cofactors
Oral health screening
refer to denist 6 months after 1st tooth eruption, no later than 12 months
- fluoride varnish once every 6 months and every 3 months when increased risk for cavities
Lead screening
- screening at 12 months and possibly 2 month visit or if immigration on arrival
- greater than 5 is risk
