Module 1: Prescribing, Dispensing, Selling and Compounding Drugs + Genetics Flashcards
What are the controlled acts for NP’s?
- Communicating diagnosis
- Performing a procedure below the dermis or mucous membrane
- Putting an instrument, hand or finger beyond the: external ear canal, narrowing of nasal passages, larynx, opening of the urethra, labia majora, anal verge, artificial opening of the body
- Application of energy
- Casting or setting a fractured bone or dislocated joint
- Ordering and administering an IM or inhalation medication
- Prescribing, dispensing, selling or compounding a drug
- Psychotherapy
What is special about an NP compounding a medication versus dispensing?
Can only compound a medication that is prescribed by that person. Can only do this with creams or ointments.
Can dispense a prescription from other health care provider. Must be for a legitimate reason and documented.
What are the 4 DNA bases?
1) cytosine
2) guanine
3) adenosine
4) thymine
Tell me about chromosomes.
46 total, 23 pairs, 22 autosomes (22 numbered pairs), 1 sex chromosome pair (XY,XX)
What does aneuploidy mean?
a condition where a person has an additional or missing chromosome (ex. down syndrome T21- 3 chromosomes)
What does non-disjunction mean?
Failure of chromosomes to seperate properly during meiosis or mitosis, resulting in daughter cells with an abnormal number of chromosomes
Talk about the genetics of down syndrome.
- 3 chromosomes for pair 21
- distinct facial features
- congenital heart defects can occur
- developmental delay
- hypotonia
- duodenal atresia
- increased risk of leukemia
- increased risk of early-onset alzheimer’s disease
What is trisomy 18?
- profound global developmental delay
- congenital heart defects
- characteristic facial features
- failure to thrive
- hypertonia
What is Trisomy 13?
- severe mental retardation
- growth retardation
- characteristic facial features
- multiple congenital anomalies (CHD, CNS malformations, cleft lip/palate, polydoctyly)
What is Turner Syndrome?
- (45, X)
- short stature
- primary infertility/gonadal dysgenesis
- congenital anomalies (cardiac, renal)
- characteristic facial features
- normal intelligence
What is Klinefelter Syndrome?
- (47, XXY)
- Tall stature
- gynecomastia (increased breast tissue)
- hypogonadism (female physical features)
- infertility
- learning difficulties
What is 47, XYY?
- learning difficulties
- no dysmorphic features
- normal fertility
- behaviour issues (ADD, hyperactivity, impulsiveness)
What is autosomal dominant inheritance?
- result from a mutation in one allele on a non-sex chromosome that results in a disease phenotype, regardless of the second, presumably normal, allele
- a way a genetic trait or condition can be passed down from a parent to a child
- one copy of a mutated gene from one parent can cause the genetic condition
- both sexes are equally affected by the disease
- the disease does not skip generations
- either parent can pass along the disease to a child of either sex
- a child who has a parent with the mutated gene has a 50% chance of inheriting the mutated gene
Example: huntington’s disease, morfan syndrome, hypertrophic cardiomyopathy
What is autosomal recessive inheritance?
- you inherit 2 mutated genes- one from each parent
- require two mutated alleles at a specified locus, as one alone can be compensated for by a normal allele
- passed on by 2 carriers (usually)
- as long as you have 1 good copy of the gene, you’ll be fine (everyone)
- affects males and females equally
- marriage between relatives is often present
- disease is seen in siblings, but usually not in their parents
- about 25% of offspring of two phenotypically normal carrier parents will have the disease.
- usually affect children earlier in life
Ex: CF, sickle cell anemia, PKU, hereditary hemochromatosis
What is the relationship between X and Y chromosomes and gene issues? X-Linked Inheritance?
Y chromosome- gene deficient, infertility issues with issues of Y
X chromosome- gene rich, if the gene issue is on X for men, they’re going to have the condition, “healthy women, boys with problems”
- X-linked dominant diseases are rare, X-linked recessive diseases are more common
- disease is never transmitted from father to son
- can see skipped generations, due to a series of carrier females passing along the mutated allele
- affected males will pass the allele to all daughters who become carriers
- carrier females will transmit the disease to 50% of their sons.
Example: duchenne muscular dystrophy, hemophilia
What is variable vs. non-variable expressivity?
- variable: genetic mutations causing genetic diseased do not follow the same clinical course
- non-variable: if you get it, you’ll present the same way
What is penetrance?
- how likely the gene will cause a problem when its not working properly
- some genes are highly penetrant and others aren’t penetrant at all
- incomplete penetrance (ex. 50%)
Example: breast Ca, morphan’s syndrome - complete examples: huntington’s disease
100% penetrance and variabile expressivity- different features of the disease in different members of the family
Talk about the different methods of genetic testing.
Chromosome testing:
- Routine karyotype: old-fashioned, detects aneuploidy, large chromosome deletions/duplications, chromosome rearrangements (translocations)
- FISH (fluorescence in situ hybridization): submicroscopic deletions, detects aneuploidy
- Chromosomal microarray: even smaller submicroscopic deletions/duplications, aneuploidy
- Molecular Genetic Testing: analysis of DNA to detect heritable, disease-related gene mutations for clinical purposes, which include predicting risk of disease, identifying carriers and establishing prenatal or clinical diagnoses or prognoses
- Sequencing: GOLD STANDARD, determines the sequence of nucleotides in DNA, does not detect single larger deletions/duplications, detects single base pair changes and small deletions/duplications
- should never be a stand alone test, not all variants cause disease, even when found in disease genes
Talk about genetic testing in obstetrics/prenatal care.
- multiple marker screening (MSS, IPS, FTS)
- U/S and biochemical markers
- risk assessment for: down syndrome, trisomy 13/18, open neural tube defects, etc.
- 1:200 risk is considered a positive screening
Amiocentesis:
- 15-18 weeks, small risk of miscarriage (0.5%), detects chromosome anomalies, single gene disorders, open neural tube defects
Chorionic villus sampling (CVS):
- 11-13 weeks, sampling of placenta for fetal genetic material, 1% risk of miscarriage, detects chromosome anomalies, single gene disorders
What is NIPI?
Non-invasive prenatal testing:
- 98% certainty
- detects presence of fetal aneuploidy (trisomy 13/18/21)
- Available for: older mothers, other children with genetic diseases, or at a cost
- sex chromosome aneuploidy from maternal blood sample
- not diagnostic
What does an U/S add to genetic testing in obstetrics/prenatal care?
- identifies “soft markers” for chromosome anomalies
- identify fetal anomalies (cardiac, renal)
- assess risk for underlying genetic syndrome
Talk about newborn screening.
- screening for 29 genetic diseases (ex. PKU, hypothyroidism, CF)
- not diagnostic
- positive screening will lead to genetic DNA testing
What components are involved in a genetic disorders diagnosis?
- family history assessment
- clinical examination, medical hx
- biochemical marker testing
- genetic testing
- genetic counselling
What is a karyotype?
- A karyotype depicts the number and appearance of all chromosomes that are found within the nucleus of a cell
- All of the diploid cells within one organism will contain the same karyotype
- 46 chromosomes: 22 pairs of autosomal chromosomes and one pair of sex chromosomes
- A typical human female’s karyotype would be known as 46, XX to denote all 23 pairs of chromosomes including the XX sex chromosomes
- A typical male’s karyotype would be known as 46, XY to denote all 23 pairs of chromosomes including the XY sex chromosomes
An example of a karyotype: Turner syndrome has a mutation that can be recognized in its karyotype. It is a condition that affects women who are partially or completely missing an X chromosome, so the majority of cases have the karyotype 45, X
