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)
How is HIV transmitted
bodily fluids: blood, semen, breast milk, vaginal secretions, sharing needles, amniotic fluid
Diagnostic criteria for AIDs
CD4 count <200, AIDS-defining illness, or wasting syndrome
Chances of passing HIV from mother to baby
Without treatment: 25-30% chance, with treatment: <2%
Chance of healthcare worker developing HIV
0.23% risk of becoming HIV infected after an accidental needle stick
What is the purpose of antiretroviral therapy
delay disease progression! prevent opportunistic diseases and decr. viral load to reduce trransmission
Side effects of ART therapy
metabolic syndrome (insulin resistance, dyslipidemia, fat redistribution (buffalo hump) and facial wasting.
S/E often cause non adherance
5 classes of ART drugs
reverse transcriptase inhibitors, integrase inhibitors, protease inhibitors, fusion inhibtors, CCR5 antagonists
how to improve adherence to ART drugs
simplify drug regimen, enlist family support, counsel about S/E
S/E of NRTI (zidovudine- Retrovir, AZT)
SEVERE anemia, neutropenia, fatty liver, myopathy, metabolic syndrome, Lactic acidosis
S/E of NonNRTI (enfavirenz- Sustiva)
CNS effects, liver damage. Take at Night!
S/E of Protease Inhibitors (lopinavir/ritonavir- Kaletra)
N/V, diarrhea, asthenia, pancreatitis, metabolic syndrome, decr. bone density
HIV Fusion inhibitors (enfuvirtide)
first and only of its kind, very expensive, 2xdaily SQ. S/E: ISR, hypersensitivity, bacterial pneumonia
CCR5 antagonist (maraviroc)
need to do genetic testing first. S/E: URI, hepatotoxicity, CNS depression, fever, rash
HIV teaching
COMPLIANCE, reducing risk (condoms) promoting healthy and supportive relationships involving an HIV infected partner, coping, Needle exchange for drug users, HIV testing, behavior interventions
prevention of HIV
take precautions when handling blood products, wear condoms, don’t share needles, avoid accidental needle sticks
Bell’s Palsy
unilateral facial paralysis with unknown etiology (may be d/t ischemia, virus, or inflam. recovery is spontaneous
Bell’s Palsy CM
tinnitus, mouth numbness, unilateral loss of taste, drooling, excessive tearing, inability to chew
Bell’s palsy management
gentle moist heat on thee face daily, nerve stimulation, eye protection, corticosteroids to decr. inflam.
Guillan-Barre syndrome
autoimmune attack after a viral disease. demyelination in the brain causes ascending weakness. rare disorder
Guillain-Barre CM
muscle weakness, decr. reflexes, bowel and bladder dysfunction, muscle pains, OH, vagal responses, facial paralysis, dysphagia, blindness, anorexia, respiratory failure!!
Guillain-Barre Mgmt
for respiratory issues you need rapid response. need EKG for autonomic dysfunction, nutrition support for dysphagia, SCDs and anticoag. for impaired mobility. give IV immunoglobulin in first 2 weeks, plasmapheresis
Myasthenia Gravis
an autoimmune disease where antibodies block the neuromuscular junction, causing decr. muscle contraction and weakness which incr. throughout the day. no cure!
Myasthenia Gravis CM
varies per patient, affects eyes, chewing, swallowing, speaking, and breathing
MG crisis
difficulties with swallowing and breathing. exacerbated by resp. infections, surgery, distress, pregnancy, drug exposure, and corticosteroids
Trigeminal Neuralgia
debilitating unilateral pain in the face. unknown etiology, but results from compression of the artery and nerve root. pain triggered by touch, chewing, or brushing teeth.
Trigeminal Neuralgia treatment
goal is pain relief. electrical nerve stimulation, nerve decompression, botox. Drugs: antiseizure drugs (Tegretol, Trileptal), gabapentin, tricyclic antidepressants, antispasmodics (Baclofen)
primary Vs secondary spinal damage
primary is the initial injury that damages the spinal cord. the secondary is after the injury and occurs when hemorrhage around the cord, vasoconstriction, causing an influx of cells and inflammation causing ischemia, edema, and necrosis
spinal shock CM
flaccid paralysis below the injury, decr. reflexes (including bowel and bladder). Hypotension and bradycardia
Neurogenic shock
loss of autonomic and sympathetic function. bradycardia, hypotension. causes decr. CO and venous pooling. cannot sense temperature changes below the injury
Mgmt for spinal injury CM
Respiratory: affected by cervial injuries - may need mechanical ventilation.
blood thinners and SCDs for immobility
bladder: may need foley for atonic, or intermittent cath/bladder retraining for neurogenic bladder. Baclofen for a spastic bladder. neurogenic bowel may result in and illeus - in which case you will need NG tube for rest the bowel.
Autonomic dysreflexia teaching
prevent overextended bladder/bowel. keep HOB above 30, report terrible headache to nurse.
Hepatitis A prevention
hand washing and good hygiene, vaccination
Hep A exposure management
IM immunoglobulin within 2 weeks post exposure
Hep B prevention
vaccination, avoid risky behaviors, active immunization for at-risk parties
Hep B management
peglygated interferon! pair with antivirals. alpha-interferon(has alot of side effects)
Hep B exposure management
passive immunization, give hours-days after exposure
Hep C prevention
no vaccine, use prevention control measures- risky behaviors
hep C post-exposure treatment
no specific treatment. testing to determine the chronic stage, prevent transmission, educate about avoiding liver detoxifying drugs. peglygated interferon
