Autosomal Dominant
1 parent has, 50% change of child having
Autosomal Recessive
Both parents are carriers, 25% change of child having, 50% chance child is a carrier.
Cystic Fibrosis
affects pancreas causing secretions in lungs
21st Trisomy
Down Syndrome
Klinefelter Syndrome (XXY)
male has extra X, female like qualities
Turner Syndrome
Missing X in females
Alpha Thalassemia
inherited blood disorder; mild to severe anemia
Beta Thallasemia
low hemoglobin; contraindicated medication ferrous sulfate
Prevalence Risk
proportion of the population affected at a certain time
Incidence rate
number of new cases divided by population
Innate immunity
inflammation; increased vascular permeability
B&T lymphocytes
immune response
primary malignant tumor
lack of organization of cells
glucocorticoids
used in combination with other agent to treat lymphoid tissue (leukemia). glucocorticoids
are directly toxic to lymphoid tissues.
Selective estrogen receptor modulators (SERM)
for hormone receptor positive and advanced breast cancer. (Tamoxifin reduces risk and
recurrence risk)
Heart failure
impairment of the ventricle to fill with or eject blood; heart cannot meet metabolic need
of the body.
CHF
heart cannot keep up with metabolic needs; volume overload in pulmonary area
Left Ventricular Dysfunction
reduced ejection fraction; ventricle having issue ejecting blood.
normal ejection fraction
55 - 60 % (blood pumped out with each heartbeat)
Ejection fraction of 50% - reduced or preserved?
preserved
Diastolic CHF
, preserved ejection fraction, problem is with filling
Systolic CHF
reduced ejection fraction, problem is with ejecting
Left sided CHF
pulmonary (JVD, fluid volume overload, rails, S-3 murmurs) ** #1 cause of Right sided
CHF
BNP
gold standard lab test to diagnose CHF
Echocardiogram
Diagnostic tool, evaluates heart structure and function
At Risk for HF - Stage A
no structural heart disease or symptoms of heart failure
Stage A HF co-morbidities
htn, atherosclerotic disease, diabetes, metabolic syndrome, patients using cardiotoxins
with family history
Therapy goals of stage A HF
treat htn, encourage smoking cessation, encourage regular exercise, treat lipid
disorders, discourage alcohol intake/drug use, control metabolic syndrome
Meds: ACEI or Angiotensin II RB for vascular disease or diabetes (avapro, losartan,
benicar, diovan, etc)
At Risk for HF - Stage B
structural heart disease but no symptoms of heart failure
Stage B HF co-morbidities
previous MI, LV remodeling with LV hypertrophy and low EF, asymptomatic valvular
disease
Therapy goals of Stage B HF
Meds: ACEI or ARB, Beta-blockers, inplantable defibrillators
Stage C heart failure
structural heart disease with prior or current symptoms of HF
Presentation of Stage C HF
known structural heart disease and shortness of breath and fatigue, reduced exercise
tolerance
Therapy for Stage C HF
dietary salt restriction, MEDS: diuretic, ACEI, beta blockers. Some patients: aldosterone
antagonist, ARBs, digitalis, hydralazine/nitrates, biventricular pacing, inplantable
defibrillators
Stage D heart failure
refractory HF requiring specialized interventions
Presentation of Stage D HF
marked symptoms at rest despite maximal medical therapy (recurrently hospitalized or
cannot be safely discharged without specialized interventions)
Therapy goals for Stage D HF
compassionate end-of-life care/hospice, extraordinary measures ,heart transplant,
chronic inotropes, permanent mechanical support, experimental drugs or surgery
Ischemic heart Disease (CAD, MI) presentation