Exam 4 Flashcards
Chance of inheriting an Autosomal Dominant disease
50%
Types of Autosomal Dominant diseases
BRCA mutation, huntington’s
Chance of inheriting an Autosomal Recessive disease
25% affected, 50% carrier
Types of Autosomal Recessive diseases
cystic fibrosis, sickle cell disease, phenylketonuria
How are X-linked disorders inherited
Carried on the female chromosome, sons are affected
Types of X-linked disorders
Duchenne muscular dystrophy, Hemophilia factor VII and IX
How are multifactorial disorders passed down
make have familiar tendencies, but affected greatly by environment and behavior choices
types of multifactorial disorders
Spina Bifida, congenital heart defects, diabetes, heart disease, high BP
types of chromosomal abnormalities
intellectual disabilities, down syndrome, trisomy 21, Philadelphia chromosome, chronic myelocytic leukemia
Why do we use genetic testing?
to diagnose, confirm, or rule out disease, to see if you are a carrier, and to test how you metabolize certain drugs.
what is your risk of inheriting sickle cell disease
25% chance of having the disease (A.R)
problems caused by sickle cell disease
fatigue (decr. Hgb), pain (neuropathic, nerve damage, ulcers), incr. risk for infection
complications of sickle cell disease
HF, anemia, enlarged face bones, jaundice, ulcers, retinopathy, impotence
SC crisis
severe pain d/t vaso-occlusive episode blocking blood flow. can lead to ischemia, infarction, and necrosis from hypoxia. Exercise, cold, and high altitude can aggravate it.
hydroxyurea
chemotherapy drug for SC disease to kill the Hgb causing problems. can cause myelosuppression -> higher risk for infection
how to prevent SC crisis
hydroxyurea and DVT prophylaxis
What factors contribute to antimicrobial drug resistance in HIV
sequencing errors that occur during replication of the genetic material, it can cause the HIV to mutate from drug-specific to drug-resistant
How can antimicrobial drug resistance be decreased?
using a multi-drug combination from different classes
HIV testing
best is antigen blood test and RNA blood test
Why get HIV tested
prevent transmission to others, get treatment for disease before it progresses to AIDS
Stage 0 of HIV “Acute phase” (CM, characteristics, complications)
flu-like symptoms, can develop CNS side effects (meningitis, neuropathies). most infectious stage of disease d/t high viral load. pt should avoid any behaviors that could result in transmission.
Stage 1 and 2 “asymptomatic phase”
(CM, characteristics, complications)
vague symptoms or none at all. Tcell count <500. lower viral load, but dormant HIV cells still present = transmissible. AIDS may develop in ~10yrs
Stage 3 “symptomatic phase”
(CM, characteristics, complications)
persistent fever, night sweats, chronic diarrhea, recurrent headaches, and severe fatigue. T cell count <200. opportunistic diseases can occur, now considered AIDS
opportunistic diseases during AIDs
thrush, yeast infection, shingles, Epstein Barr, herpes, Kaposi sarcoma, oral hairy leukoplakia, pneumocystis jiroveci (PCP)