Module 5 - Assisting Other Professionals and Inborn Errors of Metabolism Flashcards
3. Assist other health care professionals w/ specimen collection 4. Collect blood samples for inborn errors or metabolism
What may assisting other healthcare professionals look like?
- notifying lab personnel when culture is to be collected
- assembling materials
- explaining procedure to patients
What can you do when assisting with blood cultures? What are the steps?
- Label proper tubes or bottles
- Wash hands
- Observe standard precautions + wear gloves and provide gloves for person you are assisting
- Place protective pad under patient’s arm
- Prepare patient’s skin w/ at least 2 antiseptic wipes & cleanse area twice
- Assist in venipuncture process
- Assist w/ applying pressure bandages once done
- Check patient to ensure stopped bleeding
- Assist w/ proper disposal
- Document procedure, ex: date, time & who performed
- Immediately take specimens to laboratory
- Ensure you have 2 blood culture bottles: 1 aerobic & anaerobic
When assisting a blood culture, what is expected you DON’T do as help?
Perform the venipuncture itself (can assist with process however)
What are newborns routinely screened for?
Metabolic & genetic defects + metabolic, genetic, and infectious diseases & disorders
How are newborns screened for defects, diseases, and disorders?
By analyzing a blood sample collected on a specific filter paper (in other words, blood-spot testing)
When is blood-spot testing usually performed for newborn screenings?
Before the newborn is 72 hours old
What if you perform a blood-spot test before a newborn is 24 hours old?
A second specimen should be collected before 2 weeks of age
What type of conditions can early screening detect in newborns?
- Cystic fibrosis
- Hypothyroidism
- Phenylketonuria (PKU)
- Galactosemia
- Genetic disorders: biotinidase deficiency & sickle cell disease
- Infectious diseases: human immunodeficiency virus (HIV) & toxoplasmosis
Define cystic fibrosis
a genetic condition & disease (where mucous secretions accumulate in organs
Name derives from the conditions consequences:
“cystic” -> causes cysts
“fibrosis” -> leads to scarring in pancreas (a key organ affected)
Define Hypothyroidism
A condition & disorder of the thyroid gland // decreased thyroid function; not meeting the body’s need of the thyroid hormone
Why is thyroid important?
Produces hormones to regulate the body’s metabolism
What can hypothyroidism lead to? Why?
Can lead to increase risk of heart disease & failure due to the development of LDL cholesterol in blood
Define Phenylketonuria (PKU)
Metabolic genetic disorder // deficiency of the hepatic enzyme phenylalanine hydroxylase, making it difficult to break down the amino acid phenylalanine
Why is Phenylketonuria (PKU) so dangerous? Particularly in infants?
The lack of enzymes to break down phenylalanine can rise to toxic levels of the amino acid // It can quickly become dangerous when infants are left unchecked by screenings, leading to health issues, brain damage, or even death.
Give examples of classic PKU symptoms and signs.
- Permanent intellectual disability
- Seizures
- Delayed development
- Behavioral problems
- Psychiatric disorders
- Mousy body odor
- lighter color of skin & hair compared to family
- eczema
Define Galactosemia
Rare genetic disorder // deficiency of the enzyme GALT to break down galactose into glucose.
What is galactose?
A sugar found in dairy, which is used to make glycolipids & glycoproteins
Why is galactosemia dangerous, particularly infants?
If left untreated, a infant can slowly starve to death or suffer complications from built up toxic levels
What do infants receive if they screened for galactosemia?
Can only receive soy milk
Define Biotinidase Deficiency
Metabolic disorder // deficiency of the biotinidase enzym to break down biotin (Vitamin b7)
What is the purpose of Vitamin B7?
Helps the body metabolize nutrients for body functions
Define Sickle Cell Disease
Blood disorder // Abnormal hemoglobin structure from genetic mutation in HBB gene (the gene that produces hemoglobin)
Define Human Immunodeficiency Virus (HIV)
A virus // attacks cells that help the body fight against infection
Why is HIV dangerous?
It will weaken the body’s immune system and make it more prone to infection.
