NUR 239 Unit 4 Exam Study Guide
Genetics
• Down syndrome – trisomy of chromosome 21 causes distinctive physical changes
• Hemophilia – recessive X-linked, bleeding disorder
• Marfan syndrome – autosomal dominant disorder, long, thin arms, eye, cardiac, and
skeletal changes
• Neurofibromatosis – autosomal dominant, genetic defect in tumor-suppression gene,
nodules, spots
• Huntington’s – autosomal dominant neurodegenerative disorder
• Cystic fibrosis – autosomal recessive chloride ion transport disorder causing lung and
pancreatic disease
• Sickle cell – autosomal recessive, red blood cell defect
Gene mutations
• Error in DNA duplication
• Occurs during replication process as result of substitution, loss or addition, or
rearrangement of one or more base pairs
• Most DNA defects are corrected by DNA repair mechanisms and are never detected. If
there is loss of DNA repair mechanism enzymes, there is link to cancer.
Period of vulnerability
• 15-60 days after conception
Teratogenic agents, including Fetal Alcohol Syndrome
• Radiation; Molecular wt. of drug; Environmental chemical and drugs
• Stage of pregnancy when drug was taken; Duration of drug exposure
• Medications and illicit drugs - rate in which drug crosses placenta, duration of exposure,
fetal stage of development during exposure, lipid-soluble drug cross placenta more
readily, molecular wt. < 500 cross more readily
• Alcohol – passes freely across placenta, exerts harmful effects throughout gestation
o Fetal alcohol syndrome: effects extend throughout pregnancy
• Facial abnormalities, growth defects, CNS abnormalities
• Should eliminate alcohol while pregnant- crosses placental barrier
• Infectious Agents – TORCH (toxoplasmosis, other, rubella, cytomegalovirus, and herpes)
• Nutritional Deficiencies – Folic Acid
Nervous System
Parkinson’s Disease: causes, clinical manifestations, diagnosis, medications
, • Causes: imbalance of dopamine and acetylcholine in the brain (less dopamine), could
have genetic link, could be from head injuries earlier in life, could be from
environment (pesticides, chemicals)
• Clinical manifestations: resting tremor, bradykinesia, rigidity, postural hypotension;
slow to start walking and difficult stopping
• Medications: give at same time every day – even 5 min difference can cause adverse
effects
o Levodopa: dopamine receptor agonist, increases dopamine in the brain, main
drug for Parkinson’s
▪ Nursing implications: counteracts with antidepressants (can lead to
increased BP = stroke); administer after/ with food to prevent nausea
but may delay absorption (high-protein interferes); contraindicative
with narrow angle glaucoma; iron supplements shouldn’t be given at
same time; 6-8 weeks to see results; CNS effects – hallucinations,
vision changes (report to HCP)
o Carbidopa: helps with nausea caused by levodopa, helps with breakdown of
levodopa to dopamine
o Benztropine: helps with sedation if having trouble sleeping; add-on med for
Parkinson’s; anticholinergic med – calm down acetylcholine and increase
dopamine
▪ Nursing implications: adverse effects – hallucinations, tachycardia,
constipation (take in fiber); contraindicative with glaucoma; can take
with food but causes dryness of the mouth – good oral care; causes
water to be retained – void before administration; interferes with OTC
meds – notify HCP on all meds; extreme heat/hot weather should be
avoided
TIA/Ischemic Stroke: causes, clinical manifestations, diagnosis, treatment
• decreased or stopped blood flow usually due to clot (87% of all strokes)
• weakness on one side of body, slurred speech, confusion, homobymous hemianopsia
blindness, sensory loss
• CT, ECG, carotid ultrasound
Thrombolytic- alteplase (t-PA)
• Can only use for ischemic strokes, Limited window of opportunity, Must start within
3 – 4.5 hours of symptom onset, Major risk for bleeding, Alteplase (tPA) – tissue
plasminogen activator, Fibrinolytic – plasminogen activators (thrombolytic), Dissolves
thrombi to re-establish blood flow or limit tissue damage, stimulates conversion of
plasminogen to plasmin – an enzyme that breaks down fibrin
• Antidote: aminocaproic acid (Amicar)
Anticoagulants- heparin/enoxaparin
Genetics
• Down syndrome – trisomy of chromosome 21 causes distinctive physical changes
• Hemophilia – recessive X-linked, bleeding disorder
• Marfan syndrome – autosomal dominant disorder, long, thin arms, eye, cardiac, and
skeletal changes
• Neurofibromatosis – autosomal dominant, genetic defect in tumor-suppression gene,
nodules, spots
• Huntington’s – autosomal dominant neurodegenerative disorder
• Cystic fibrosis – autosomal recessive chloride ion transport disorder causing lung and
pancreatic disease
• Sickle cell – autosomal recessive, red blood cell defect
Gene mutations
• Error in DNA duplication
• Occurs during replication process as result of substitution, loss or addition, or
rearrangement of one or more base pairs
• Most DNA defects are corrected by DNA repair mechanisms and are never detected. If
there is loss of DNA repair mechanism enzymes, there is link to cancer.
Period of vulnerability
• 15-60 days after conception
Teratogenic agents, including Fetal Alcohol Syndrome
• Radiation; Molecular wt. of drug; Environmental chemical and drugs
• Stage of pregnancy when drug was taken; Duration of drug exposure
• Medications and illicit drugs - rate in which drug crosses placenta, duration of exposure,
fetal stage of development during exposure, lipid-soluble drug cross placenta more
readily, molecular wt. < 500 cross more readily
• Alcohol – passes freely across placenta, exerts harmful effects throughout gestation
o Fetal alcohol syndrome: effects extend throughout pregnancy
• Facial abnormalities, growth defects, CNS abnormalities
• Should eliminate alcohol while pregnant- crosses placental barrier
• Infectious Agents – TORCH (toxoplasmosis, other, rubella, cytomegalovirus, and herpes)
• Nutritional Deficiencies – Folic Acid
Nervous System
Parkinson’s Disease: causes, clinical manifestations, diagnosis, medications
, • Causes: imbalance of dopamine and acetylcholine in the brain (less dopamine), could
have genetic link, could be from head injuries earlier in life, could be from
environment (pesticides, chemicals)
• Clinical manifestations: resting tremor, bradykinesia, rigidity, postural hypotension;
slow to start walking and difficult stopping
• Medications: give at same time every day – even 5 min difference can cause adverse
effects
o Levodopa: dopamine receptor agonist, increases dopamine in the brain, main
drug for Parkinson’s
▪ Nursing implications: counteracts with antidepressants (can lead to
increased BP = stroke); administer after/ with food to prevent nausea
but may delay absorption (high-protein interferes); contraindicative
with narrow angle glaucoma; iron supplements shouldn’t be given at
same time; 6-8 weeks to see results; CNS effects – hallucinations,
vision changes (report to HCP)
o Carbidopa: helps with nausea caused by levodopa, helps with breakdown of
levodopa to dopamine
o Benztropine: helps with sedation if having trouble sleeping; add-on med for
Parkinson’s; anticholinergic med – calm down acetylcholine and increase
dopamine
▪ Nursing implications: adverse effects – hallucinations, tachycardia,
constipation (take in fiber); contraindicative with glaucoma; can take
with food but causes dryness of the mouth – good oral care; causes
water to be retained – void before administration; interferes with OTC
meds – notify HCP on all meds; extreme heat/hot weather should be
avoided
TIA/Ischemic Stroke: causes, clinical manifestations, diagnosis, treatment
• decreased or stopped blood flow usually due to clot (87% of all strokes)
• weakness on one side of body, slurred speech, confusion, homobymous hemianopsia
blindness, sensory loss
• CT, ECG, carotid ultrasound
Thrombolytic- alteplase (t-PA)
• Can only use for ischemic strokes, Limited window of opportunity, Must start within
3 – 4.5 hours of symptom onset, Major risk for bleeding, Alteplase (tPA) – tissue
plasminogen activator, Fibrinolytic – plasminogen activators (thrombolytic), Dissolves
thrombi to re-establish blood flow or limit tissue damage, stimulates conversion of
plasminogen to plasmin – an enzyme that breaks down fibrin
• Antidote: aminocaproic acid (Amicar)
Anticoagulants- heparin/enoxaparin
