D027 Study Guide
autosomal dominant: 1 parent has; 50% chance child will have
autosomal recessive: Both parents carry. 25% child will have;
50% chance child will carry
Cystic Fibrosis: affects pancreas & causes increased secretion
in lungs
21st Trisomy: Down Syndrome
Klinefelter Syndrome XXY: male has extra X; female qualities
Turner Syndrome: missing X in females; weblike neck
Alpha Thalassemia: inherited blood disorder; mild to severe
anemia
Beta Thalassemia: low hemoglobin; ferrous sulfate is
contraindicated
prevalence risk: proportion of population affected at certain
time
incidence rate: number of new cases divided by population
Innate Immunity: defense system with which you are born
B & T lymphocytes: immune response
primary malignant tumor: cells are disorganized
, glucocorticoids: steroids for adrenal insufficiency,
inflammatory & autoimmune disorders, asthma, organ
transplant; toxic to lymphoid tissues
selective estrogen receptor modulators/SERM: for Tx of breast
CA; Tamoxifen
Heart Failure: impairment of ventricle to fill or eject blood;
heart can’t meet metabolic needs of body
CHF: volume overload in pulmonary area; heart can’t keep up
w/ metabolic needs
Left Ventricular Dysfunction: reduced EF; ventricular problem
ejecting blood
normal ejection fraction: 55-60% blood pumped out w/ each
heartbeat
EF of 50%; reduced or preserved: preserved
Diastolic CHF: preserved EF; problem is w/ filling
Systolic CHF: reduced EF; problem is w/ ejection
Left-sided CHF: most common; left ventricle can’t pump blood
properly; fluid build-up causes breathing difficulty
BNP: gold standard to Dx CHF
Echocardiogram: Dx tool to evaluate heart structure & function
Stage A/@ risk for HF: no structural heart disease; no Sx of HF
Stage A HF Co-morbidities: HTN, atherosclerotic disease,
diabetes, metabolic syndrome, cardiotoxin use, family hx
Stage A HF Therapy goals:treat HTN, smoking cessation,
exercise, tx lipid disorders, discourage alcohol/drug use,
autosomal dominant: 1 parent has; 50% chance child will have
autosomal recessive: Both parents carry. 25% child will have;
50% chance child will carry
Cystic Fibrosis: affects pancreas & causes increased secretion
in lungs
21st Trisomy: Down Syndrome
Klinefelter Syndrome XXY: male has extra X; female qualities
Turner Syndrome: missing X in females; weblike neck
Alpha Thalassemia: inherited blood disorder; mild to severe
anemia
Beta Thalassemia: low hemoglobin; ferrous sulfate is
contraindicated
prevalence risk: proportion of population affected at certain
time
incidence rate: number of new cases divided by population
Innate Immunity: defense system with which you are born
B & T lymphocytes: immune response
primary malignant tumor: cells are disorganized
, glucocorticoids: steroids for adrenal insufficiency,
inflammatory & autoimmune disorders, asthma, organ
transplant; toxic to lymphoid tissues
selective estrogen receptor modulators/SERM: for Tx of breast
CA; Tamoxifen
Heart Failure: impairment of ventricle to fill or eject blood;
heart can’t meet metabolic needs of body
CHF: volume overload in pulmonary area; heart can’t keep up
w/ metabolic needs
Left Ventricular Dysfunction: reduced EF; ventricular problem
ejecting blood
normal ejection fraction: 55-60% blood pumped out w/ each
heartbeat
EF of 50%; reduced or preserved: preserved
Diastolic CHF: preserved EF; problem is w/ filling
Systolic CHF: reduced EF; problem is w/ ejection
Left-sided CHF: most common; left ventricle can’t pump blood
properly; fluid build-up causes breathing difficulty
BNP: gold standard to Dx CHF
Echocardiogram: Dx tool to evaluate heart structure & function
Stage A/@ risk for HF: no structural heart disease; no Sx of HF
Stage A HF Co-morbidities: HTN, atherosclerotic disease,
diabetes, metabolic syndrome, cardiotoxin use, family hx
Stage A HF Therapy goals:treat HTN, smoking cessation,
exercise, tx lipid disorders, discourage alcohol/drug use,
