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29 Cards in this Set

  • Front
  • Back
What does the cost of case finding include?
Diagnosis and treatment.
What is a Guthrie Card?
A special filter paper with the patient's information on it.
When should the heel stick for the Guthrie Card be applied?
Between 24-36 hours after birth.
Why should the heel stick be applied 24-36 hours after birth?
The baby needs to be fed first in order for the baby to be metabolizing fat and protein. You want the blood stream full of the intermediates of metabolism.
For what 2 exceptions should a heel stick be applied before 24 hours?
Pt. is being discharged or transferred, blood transfusion
What do hemoglobinopathies cause?
Sickle Cell
In what illness does the baby look fine at birth then a few months later shows up with a small head and developmental delay when it's too late to correct the damage.
In what disease does the baby look fine at birth then gets fed and in 2-3 days goes into metabolic acidosis and dies b/c they can't metabolize protein. The screening needs to be quick in order to catch this right away.
Maple Syrup Urine Disease
In what disease does the patient end up with increased potassium levels due to sodium wasting.
Congenital Adrenal Hyperplasia
In what disease is there an inability to metabolize fats?
Medium Chain Acyl-CoA Dehydrogenase Deficiency
A patient with phenylketonuria is deficient in what enzyme?
Phenylalanine hydroxylase deficiency
Patients that are unable to metabolize phenylalanine have what illness?
Phenylketonuria (PKU)
What are symptoms of undetected PKU?
Seizures, coma, brain damage which is irreversible
Can treatment of PKU reverse existing damage?
All states screen newborns for what illnesses?
PKU, Hypothyroidism, & Classical Galactosemia
Based on an executive summary, what is the #1 illness that should be screened for?
In MCAD Deficiency, what enzyme is the patient missing?
Patient is missing the enzyme that metabolizes fatty acids of a medium length to produce energy.
In a patient with untreated MCAD who went to sleep, what would be the symptoms?
Blood sugar would drop and have a chance for hypoglycemia, seizure, and death-->caused a lot of SIDS deaths
What are the advantages of Tandem Mass Spectrometry?
Rapid, Cheap
What is the disadvantage of Tandem Mass Spectrometry?
What does Tandem Mass Spectrometry allow one to do?
Allows one to look at analytes in the blood and find diseases.
What test is not currently required by the State of Michigan but probably will be soon?
Newborn Hearing Screens
Early intervention with what illness reduces language deficit by 50% and a decrease in special education costs by 50%?
Hearing Loss
Of the 48 diseases that are recommended for screening by the executive summary report, which disease are most/least recommended?
Most: MCAD
Least: CF
What is CF?
Genetic disease which causes lung problems due to a mutation in the CF transmembrane protein. Patient has repeat pulmonary infections and digestion problems.
What does the CF test look for?
Elevated levels of the pancreatic enzyme Immunoreactive Trypsinogen (IRT) which means that there is a possible pancreatic problem.
Can the 46 most common CF mutations be picked up off a Gurthrie card?
How many alleles does an individual with CF have?
2 alleles
Can the test for CF pick up a carrier?
Yes-since a person has 2 alleles, the test will pick up a single mutation in one of the alleles which would make the person a carrier but not affected by it.