U of A Pathophysiology NURS 3314
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Test 1 exam with correct answers |||\\\ |||\\\ |||\\\ |||\\\ |||\\\
Cystic Fibrosis |||\\\
1) Possibility of passing along
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2) Effects of condition
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3) Testing - correct answer✔✔1) autosomal recessive, if both parents are carriers, 25% chance
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of having the condition
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2) increased mucus in lungs and pancreas; significantly affects function of both
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3) newborn screening required in the US; genetic testing of parents if family history
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Marfan Syndrome |||\\\
1) Possibility of passing along
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2) Effects of condition
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3) Testing - correct answer✔✔1) autosomal dominant; 50% chance of child having condition if
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one parent is affected
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2) connective tissue disorder; tall stature; heart structural abnormalities
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3) genetic testing; family planning counseling if family history
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Tay Sachs Disease
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1) Possibility of passing along
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2) Effects of condition
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3) Testing - correct answer✔✔1) autosomal recessive, if both parents are carriers, 25% chance
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of child having condition
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2) nervous system development affected; death often by age 3
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3) prenatal diagnosis; genetic testing of parents if family history
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,Turner Syndrome |||\\\
1) Possibility of passing along
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2) Effects of condition
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3) Testing - correct answer✔✔1) chromosomal abnormality; complete or partially missing X
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chromosome in females |||\\\ |||\\\
2) hypogonadism, short stature, webbing of neck, often unable to reproduce
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3) prenatal diagnosis- amniocentesis or chorionic villus sampling
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Klinefelter Syndrome |||\\\
1) Possibility of passing along
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2) Effects of condition
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3) Testing - correct answer✔✔1) chromosomal abnormality in males; 1 in 500-1000 males;
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47XXY
2) lack of testes development, decreased cognitive development
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3) prenatal diagnosis; many not be detected until adolescence
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Down Syndrome |||\\\
1) Possibility of passing along
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2) Effects of condition
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3) Testing - correct answer✔✔1) most common chromosomal disorder in humans, trisomy 21;
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1 in 800 live births; risk increases with maternal age
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2) changes in facial structure, neurologic development issues, cardiac abnormalities
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3) prenatal screening
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Fragile X Syndrome |||\\\ |||\\\
1) Possibility of passing along
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, 2) Effects of condition
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3) Testing - correct answer✔✔1) disorder of the X chromosome; 1 in 1500-1800 males and
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females respectively |||\\\
2) affects neurological development
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3) moleculer genetic testing to determine extent of X chromosome abnormality
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Huntington Disease |||\\\
1) Possibility of passing along
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2) Effects of condition
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3) Testing - correct answer✔✔1) autosomal dominant; 50% chance of child having condition if
|||\\\ |||\\\ |||\\\ |||\\\ |||\\\ |||\\\ |||\\\ |||\\\ |||\\\ |||\\\ |||\\\ |||\\\ |||\\\ |||\\\ |||\\\
one parent affected
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2) neurological disorder with adult-onset;
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3) genetic testing; condition may be passed onto offspring before parent displays characteristic
|||\\\ |||\\\ |||\\\ |||\\\ |||\\\ |||\\\ |||\\\ |||\\\ |||\\\ |||\\\ |||\\\ |||\\\ |||\\\
associated with the condition |||\\\ |||\\\ |||\\\
When Injured, Cells have 2 options - correct answer✔✔1) Develop adaptive, compensatory
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changes in an attempt to maintain homeostasis
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2) Develop maladaptive changes, which are derangements of structure or function
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Cell Injury and Cell Death - correct answer✔✔1) In circumstances of overwhelming insult, cell
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injury or cell death can occur.
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2) Cell injury can be reversible, but if the injurious agent is persistent or severe enough, cell
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injury can lead to cell death
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Cell Injury - correct answer✔✔The point at which cells can no longer achieve reversible
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changes varies according to the type of cell.
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Etiology - correct answer✔✔original cause of a cellular alteration or disease
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Test 1 exam with correct answers |||\\\ |||\\\ |||\\\ |||\\\ |||\\\
Cystic Fibrosis |||\\\
1) Possibility of passing along
|||\\\ |||\\\ |||\\\ |||\\\
2) Effects of condition
|||\\\ |||\\\ |||\\\
3) Testing - correct answer✔✔1) autosomal recessive, if both parents are carriers, 25% chance
|||\\\ |||\\\ |||\\\ |||\\\ |||\\\ |||\\\ |||\\\ |||\\\ |||\\\ |||\\\ |||\\\ |||\\\ |||\\\ |||\\\ |||\\\
of having the condition
|||\\\ |||\\\ |||\\\
2) increased mucus in lungs and pancreas; significantly affects function of both
|||\\\ |||\\\ |||\\\ |||\\\ |||\\\ |||\\\ |||\\\ |||\\\ |||\\\ |||\\\ |||\\\
3) newborn screening required in the US; genetic testing of parents if family history
|||\\\ |||\\\ |||\\\ |||\\\ |||\\\ |||\\\ |||\\\ |||\\\ |||\\\ |||\\\ |||\\\ |||\\\ |||\\\
Marfan Syndrome |||\\\
1) Possibility of passing along
|||\\\ |||\\\ |||\\\ |||\\\
2) Effects of condition
|||\\\ |||\\\ |||\\\
3) Testing - correct answer✔✔1) autosomal dominant; 50% chance of child having condition if
|||\\\ |||\\\ |||\\\ |||\\\ |||\\\ |||\\\ |||\\\ |||\\\ |||\\\ |||\\\ |||\\\ |||\\\ |||\\\ |||\\\ |||\\\
one parent is affected
|||\\\ |||\\\ |||\\\
2) connective tissue disorder; tall stature; heart structural abnormalities
|||\\\ |||\\\ |||\\\ |||\\\ |||\\\ |||\\\ |||\\\ |||\\\
3) genetic testing; family planning counseling if family history
|||\\\ |||\\\ |||\\\ |||\\\ |||\\\ |||\\\ |||\\\ |||\\\
Tay Sachs Disease
|||\\\ |||\\\
1) Possibility of passing along
|||\\\ |||\\\ |||\\\ |||\\\
2) Effects of condition
|||\\\ |||\\\ |||\\\
3) Testing - correct answer✔✔1) autosomal recessive, if both parents are carriers, 25% chance
|||\\\ |||\\\ |||\\\ |||\\\ |||\\\ |||\\\ |||\\\ |||\\\ |||\\\ |||\\\ |||\\\ |||\\\ |||\\\ |||\\\ |||\\\
of child having condition
|||\\\ |||\\\ |||\\\
2) nervous system development affected; death often by age 3
|||\\\ |||\\\ |||\\\ |||\\\ |||\\\ |||\\\ |||\\\ |||\\\ |||\\\
3) prenatal diagnosis; genetic testing of parents if family history
|||\\\ |||\\\ |||\\\ |||\\\ |||\\\ |||\\\ |||\\\ |||\\\ |||\\\
,Turner Syndrome |||\\\
1) Possibility of passing along
|||\\\ |||\\\ |||\\\ |||\\\
2) Effects of condition
|||\\\ |||\\\ |||\\\
3) Testing - correct answer✔✔1) chromosomal abnormality; complete or partially missing X
|||\\\ |||\\\ |||\\\ |||\\\ |||\\\ |||\\\ |||\\\ |||\\\ |||\\\ |||\\\ |||\\\ |||\\\ |||\\\
chromosome in females |||\\\ |||\\\
2) hypogonadism, short stature, webbing of neck, often unable to reproduce
|||\\\ |||\\\ |||\\\ |||\\\ |||\\\ |||\\\ |||\\\ |||\\\ |||\\\ |||\\\
3) prenatal diagnosis- amniocentesis or chorionic villus sampling
|||\\\ |||\\\ |||\\\ |||\\\ |||\\\ |||\\\ |||\\\
Klinefelter Syndrome |||\\\
1) Possibility of passing along
|||\\\ |||\\\ |||\\\ |||\\\
2) Effects of condition
|||\\\ |||\\\ |||\\\
3) Testing - correct answer✔✔1) chromosomal abnormality in males; 1 in 500-1000 males;
|||\\\ |||\\\ |||\\\ |||\\\ |||\\\ |||\\\ |||\\\ |||\\\ |||\\\ |||\\\ |||\\\ |||\\\ |||\\\ |||\\\
47XXY
2) lack of testes development, decreased cognitive development
|||\\\ |||\\\ |||\\\ |||\\\ |||\\\ |||\\\ |||\\\
3) prenatal diagnosis; many not be detected until adolescence
|||\\\ |||\\\ |||\\\ |||\\\ |||\\\ |||\\\ |||\\\ |||\\\
Down Syndrome |||\\\
1) Possibility of passing along
|||\\\ |||\\\ |||\\\ |||\\\
2) Effects of condition
|||\\\ |||\\\ |||\\\
3) Testing - correct answer✔✔1) most common chromosomal disorder in humans, trisomy 21;
|||\\\ |||\\\ |||\\\ |||\\\ |||\\\ |||\\\ |||\\\ |||\\\ |||\\\ |||\\\ |||\\\ |||\\\ |||\\\ |||\\\
1 in 800 live births; risk increases with maternal age
|||\\\ |||\\\ |||\\\ |||\\\ |||\\\ |||\\\ |||\\\ |||\\\ |||\\\
2) changes in facial structure, neurologic development issues, cardiac abnormalities
|||\\\ |||\\\ |||\\\ |||\\\ |||\\\ |||\\\ |||\\\ |||\\\ |||\\\
3) prenatal screening
|||\\\ |||\\\
Fragile X Syndrome |||\\\ |||\\\
1) Possibility of passing along
|||\\\ |||\\\ |||\\\ |||\\\
, 2) Effects of condition
|||\\\ |||\\\ |||\\\
3) Testing - correct answer✔✔1) disorder of the X chromosome; 1 in 1500-1800 males and
|||\\\ |||\\\ |||\\\ |||\\\ |||\\\ |||\\\ |||\\\ |||\\\ |||\\\ |||\\\ |||\\\ |||\\\ |||\\\ |||\\\ |||\\\ |||\\\
females respectively |||\\\
2) affects neurological development
|||\\\ |||\\\ |||\\\
3) moleculer genetic testing to determine extent of X chromosome abnormality
|||\\\ |||\\\ |||\\\ |||\\\ |||\\\ |||\\\ |||\\\ |||\\\ |||\\\ |||\\\
Huntington Disease |||\\\
1) Possibility of passing along
|||\\\ |||\\\ |||\\\ |||\\\
2) Effects of condition
|||\\\ |||\\\ |||\\\
3) Testing - correct answer✔✔1) autosomal dominant; 50% chance of child having condition if
|||\\\ |||\\\ |||\\\ |||\\\ |||\\\ |||\\\ |||\\\ |||\\\ |||\\\ |||\\\ |||\\\ |||\\\ |||\\\ |||\\\ |||\\\
one parent affected
|||\\\ |||\\\
2) neurological disorder with adult-onset;
|||\\\ |||\\\ |||\\\ |||\\\ |||\\\
3) genetic testing; condition may be passed onto offspring before parent displays characteristic
|||\\\ |||\\\ |||\\\ |||\\\ |||\\\ |||\\\ |||\\\ |||\\\ |||\\\ |||\\\ |||\\\ |||\\\ |||\\\
associated with the condition |||\\\ |||\\\ |||\\\
When Injured, Cells have 2 options - correct answer✔✔1) Develop adaptive, compensatory
|||\\\ |||\\\ |||\\\ |||\\\ |||\\\ |||\\\ |||\\\ |||\\\ |||\\\ |||\\\ |||\\\ |||\\\ |||\\\
changes in an attempt to maintain homeostasis
|||\\\ |||\\\ |||\\\ |||\\\ |||\\\ |||\\\
2) Develop maladaptive changes, which are derangements of structure or function
|||\\\ |||\\\ |||\\\ |||\\\ |||\\\ |||\\\ |||\\\ |||\\\ |||\\\ |||\\\
Cell Injury and Cell Death - correct answer✔✔1) In circumstances of overwhelming insult, cell
|||\\\ |||\\\ |||\\\ |||\\\ |||\\\ |||\\\ |||\\\ |||\\\ |||\\\ |||\\\ |||\\\ |||\\\ |||\\\ |||\\\ |||\\\
injury or cell death can occur.
|||\\\ |||\\\ |||\\\ |||\\\ |||\\\ |||\\\
2) Cell injury can be reversible, but if the injurious agent is persistent or severe enough, cell
|||\\\ |||\\\ |||\\\ |||\\\ |||\\\ |||\\\ |||\\\ |||\\\ |||\\\ |||\\\ |||\\\ |||\\\ |||\\\ |||\\\ |||\\\ |||\\\ |||\\\
injury can lead to cell death
|||\\\ |||\\\ |||\\\ |||\\\ |||\\\
Cell Injury - correct answer✔✔The point at which cells can no longer achieve reversible
|||\\\ |||\\\ |||\\\ |||\\\ |||\\\ |||\\\ |||\\\ |||\\\ |||\\\ |||\\\ |||\\\ |||\\\ |||\\\ |||\\\ |||\\\
changes varies according to the type of cell.
|||\\\ |||\\\ |||\\\ |||\\\ |||\\\ |||\\\ |||\\\
Etiology - correct answer✔✔original cause of a cellular alteration or disease
|||\\\ |||\\\ |||\\\ |||\\\ |||\\\ |||\\\ |||\\\ |||\\\ |||\\\ |||\\\ |||\\\
