PATHOPHYSIOLOGY D115 WGU
QUESTIONS & SOLUTIONS(RATED
A+)
Turner Syndrome - ANSWERA 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 - ANSWERA 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 - ANSWERa condition of mild to severe intellectual disability and
associated physical disorders caused by an extra copy of chromosome 21
Marfan Syndrome - ANSWERautosomal dominant trait..
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 - ANSWERAutosomal dominant. inherited in an
autosomal pattern which means one copy of the altered gene in each cell is sufficient to
cause the disorder.
What causes Marfan's syndrome? - ANSWERDefects or deletions (pathogenic variants)
of the fibrillin-1 (FBN1) gene have been shown to cause Marfans syndrome
at least 25% of Marfan syndrome cases result from a new mutation in the FBN1 gene
spina bifida - ANSWERa 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 - ANSWERDecreased folic acid or maternal use of
valproic acid
Turner syndrome characteristics - ANSWERUnderdeveloped 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 - ANSWERgenetic testing , echo, bone
density, and bone age testing are necessary.
Treatment of Turners syndrome - ANSWERTreatment involves estrogen therapy and
growth hormone administration. Treat symptomatically for all other effects of the dz.
Cushing's Syndrome - ANSWERa condition caused by prolonged exposure to high
levels of cortisol
Cushing syndrome symptoms - ANSWERfatty 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 - ANSWERspread by contact with infected animals or insects.
Most common hosts are mosquitos, ticks, rodents, or bats.
MRSA (methicillin-resistant Staphylococcus aureus) - ANSWERan infection caused by
specific bacteria that has become resistant to many antibiotics
B12 anemia - ANSWERcobalamin 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 - ANSWERa 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 - 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 - ANSWERanemia 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
QUESTIONS & SOLUTIONS(RATED
A+)
Turner Syndrome - ANSWERA 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 - ANSWERA 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 - ANSWERa condition of mild to severe intellectual disability and
associated physical disorders caused by an extra copy of chromosome 21
Marfan Syndrome - ANSWERautosomal dominant trait..
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 - ANSWERAutosomal dominant. inherited in an
autosomal pattern which means one copy of the altered gene in each cell is sufficient to
cause the disorder.
What causes Marfan's syndrome? - ANSWERDefects or deletions (pathogenic variants)
of the fibrillin-1 (FBN1) gene have been shown to cause Marfans syndrome
at least 25% of Marfan syndrome cases result from a new mutation in the FBN1 gene
spina bifida - ANSWERa 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 - ANSWERDecreased folic acid or maternal use of
valproic acid
Turner syndrome characteristics - ANSWERUnderdeveloped 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 - ANSWERgenetic testing , echo, bone
density, and bone age testing are necessary.
Treatment of Turners syndrome - ANSWERTreatment involves estrogen therapy and
growth hormone administration. Treat symptomatically for all other effects of the dz.
Cushing's Syndrome - ANSWERa condition caused by prolonged exposure to high
levels of cortisol
Cushing syndrome symptoms - ANSWERfatty 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 - ANSWERspread by contact with infected animals or insects.
Most common hosts are mosquitos, ticks, rodents, or bats.
MRSA (methicillin-resistant Staphylococcus aureus) - ANSWERan infection caused by
specific bacteria that has become resistant to many antibiotics
B12 anemia - ANSWERcobalamin 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 - ANSWERa 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 - 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 - ANSWERanemia 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
