D115 WGU PATHOPHYSIOLOGY COMPREHENSIVE
DETAILED STUDY GUIDE QUESTIONS AND ANSWERS
(GRADED A+) 2024 UPDATE
What causes Marfan's syndrome? - (correct answer) Defects or deletions
(pathogenic variants) of the fibrillin-1 (FBN1) gene have been shown to cause Marfans
syndrome
Turner Syndrome - (correct answer) A chromosomal disorder in females in which
either an X chromosome is missing, making the person XO instead of XX, or part of one
X chromosome is deleted.
Tay-Sachs disease - (correct answer) A human genetic disease caused by a
recessive allele that leads to the accumulation of certain lipids in the brain. Seizures,
blindness, and degeneration of motor and mental performance usually become manifest
a few months after birth.
Down Syndrome - (correct answer) a condition of mild to severe intellectual
disability and associated physical disorders caused by an extra copy of chromosome 21
a genetic disorder that changes the proteins that help make healthy connective tissue.
This leads to problems with the development of connective tissue, which supports the
bones, muscles, organs, and tissues in your body.
Marfans syndrome genetic trait type - (correct answer) Autosomal dominant.
inherited in an autosomal pattern which means one copy of the altered gene in each cell
is sufficient to cause the disorder.
at least 25% of Marfan syndrome cases result from a new mutation in the FBN1 gene
spina bifida - (correct answer) a congenital defect that occurs during early
pregnancy when the spinal canal fails to close completely around the spinal cord to
protect it
What can cause Spina Bifida - (correct answer) Decreased folic acid or maternal
use of valproic acid
Turner syndrome characteristics - (correct answer) Underdeveloped ovaries (sterile)
Short stature (~ 4'7")
Webbing of the neck
Edema
Underdeveloped breasts; wide nipples
High number of aborted fetuses
, Diagnostic testing for Turner's syndrome - (correct answer) genetic testing , echo,
bone density, and bone age testing are necessary.
Treatment of Turners syndrome - (correct answer) Treatment involves estrogen
therapy and growth hormone administration. Treat symptomatically for all other effects
of the dz.
Cushing's Syndrome - (correct answer) a condition caused by prolonged exposure
to high levels of cortisol
Cushing syndrome symptoms - (correct answer) fatty hump between shoulders, a
rounded face(moon faced), and pink or purple stretch marks on skin, thinning fragile
skin, slow healing of cuts, insect bites and infections, acne, decreased libido, decreased
fertility, irregular or absent menstrual periods, fatigue, muscle weakness, cognitive
difficulties, and headaches.
Viral hemorragic fevers - (correct answer) spread by contact with infected animals or
insects. Most common hosts are mosquitos, ticks, rodents, or bats.
MRSA (methicillin-resistant Staphylococcus aureus) - (correct answer) an infection
caused by specific bacteria that has become resistant to many antibiotics
B12 anemia - (correct answer) cobalamin deficiency, is a condition that develops
when your body can't make enough healthy red blood cells because it doesn't have
enough vitamin B12. Your body needs vitamin B12 to make healthy red blood cells,
white blood cells, and platelets. (pernicious anemia)
Pernicious Anemia - (correct answer) a type of vitamin B12 anemia. An autoimmune
condition in which the body's immune system attacks the actual intrinsic factor (IF)
protein or the cells in the lining of your stomach that make it.
Folate (folic acid) deficiency anemia - (correct answer) - Folate is an essential
vitamin for RNA and DNA synthesis within maturing RBC
- Absorption of folate occurs in the upper small intestine
- Is common in alcoholics and individuals with chronic malnourishment
- Is associated with neural tube defects of the fetus
Folate deficiency occurs when your body doesn't get enough folate. Symptoms include
fatigue, weakness, mouth sores and neurological issues.
iron deficiency anemia - (correct answer) anemia resulting when there is not enough
iron to build hemoglobin for red blood cells. Your bone marrow needs iron to make
hemoglobin. Without adequate iron, your body can't produce enough hemoglobin for red
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