Exam 2: NR 283/NR 283 Pathophysiology Exam 2
For example, a 28-year-old woman has been sick with the flu for the past week, vomiting several times
every day. She is having a difficult time keeping solids and liquids down, and has become severely
dehydrated. After fainting at work, she was taken to a walk-in clinic, where an IV was placed to help
rehydrate her. Arterial blood was drawn first, revealing the following: pH- 7.50, PaCO2- 40, HCO3- 32.
How would you classify this patients acid-base stauts? - ANSWER:pH- 7.50- base
PaCO2- 40, normal
HCO3- 32- base
- metabolic alkalosis, non-compensating
What is an example of naturally acquired passive immunity? - ANSWER:the placental transfer of IgG from
the mother to the fetus
What is an example of an artificially acquired adaptive immune response? - ANSWER:vaccines
T/F: Helper T cells can only respond to antigens complexed with MHC class 2 proteins? - ANSWER:true
What is the difference between a congenital and hereditary disease? - ANSWER:hereditary disease-
means there is a problem with the genes @ fertilization
congenital disease- means the genes @ fertilization were normal; in utero change
What are the causes for hereditary and congenital malformations? - ANSWER:- intrauterine injury to
embryo or fetus
- environmental factors
- chromosomal abnormalities
- abnormalities of individual genes
At what stage do all the major organ systems develop in an embryo? - ANSWER:week 3-8; embryonic
period
What are the causes of intrauterine injury? - ANSWER:- harmful drugs and chemicals
- radiation
- maternal infections
What does nondisjunction mean? - ANSWER:failure of homologous chromosomes in germ cells to
separate
What is a monosomy? - ANSWER:absence of a chromosome in a cell
What is a trisomy? - ANSWER:presence of an extra chromosome in a cell
, What is deletion? - ANSWER:chromosome breaks apart during meiosis, and broken piece is lost
What is translocation? - ANSWER:misplaced chromosome, or part of it, attaches itself to another
chromosome
What is turner syndrome? - ANSWER:a chromosomal disorder in which a female is only born with one X
chromosome
characteristics:
- can cause developmental problems, such as height or failure for the ovaries to develop
What is triple X syndrome? - ANSWER:an abnormality resulting in an extra X chromosome in some
females
What is Klinefelter syndrome? - ANSWER:a genetic condition in which a male is born with an extra copy
of the X chromosome
characteristics:
- can cause the formation of breasts and minimal facial or body hair
What is XYY syndrome? - ANSWER:a genetic condition in which a male has an extra Y chromosome
characteristics:
- can result in an abnormality of height, learning problems, more acne, etc.
What is fragile X syndrome? - ANSWER:the abnormality of the X chromosome on its tip
- women pass it to daughters and sons
- men pass it to daughters
Which chromosome does down syndrome affect? - ANSWER:21
What is translocation down syndrome? (14/21) - ANSWER:chromosome 21 is fused with chromosome 14
or another chromosome; chromosome number is not increased, but genetic material is equivalent to 47
chromosomes
What are the causes of translocation down syndrome? - ANSWER:- translocation accidentally occurred
during gametogenesis in the germ cells
- parent is a carrier
What are the possible outcomes of pregnancy in a parent who is a carrier of translocation down
syndrome? - ANSWER:normal, carrier, nonviable, down syndrome
What is the disease called when there is a trisomy on chromosome 13? - ANSWER:patau syndrome
characteristics:
- abnormal development of skull and brain
- abnormal eye development
For example, a 28-year-old woman has been sick with the flu for the past week, vomiting several times
every day. She is having a difficult time keeping solids and liquids down, and has become severely
dehydrated. After fainting at work, she was taken to a walk-in clinic, where an IV was placed to help
rehydrate her. Arterial blood was drawn first, revealing the following: pH- 7.50, PaCO2- 40, HCO3- 32.
How would you classify this patients acid-base stauts? - ANSWER:pH- 7.50- base
PaCO2- 40, normal
HCO3- 32- base
- metabolic alkalosis, non-compensating
What is an example of naturally acquired passive immunity? - ANSWER:the placental transfer of IgG from
the mother to the fetus
What is an example of an artificially acquired adaptive immune response? - ANSWER:vaccines
T/F: Helper T cells can only respond to antigens complexed with MHC class 2 proteins? - ANSWER:true
What is the difference between a congenital and hereditary disease? - ANSWER:hereditary disease-
means there is a problem with the genes @ fertilization
congenital disease- means the genes @ fertilization were normal; in utero change
What are the causes for hereditary and congenital malformations? - ANSWER:- intrauterine injury to
embryo or fetus
- environmental factors
- chromosomal abnormalities
- abnormalities of individual genes
At what stage do all the major organ systems develop in an embryo? - ANSWER:week 3-8; embryonic
period
What are the causes of intrauterine injury? - ANSWER:- harmful drugs and chemicals
- radiation
- maternal infections
What does nondisjunction mean? - ANSWER:failure of homologous chromosomes in germ cells to
separate
What is a monosomy? - ANSWER:absence of a chromosome in a cell
What is a trisomy? - ANSWER:presence of an extra chromosome in a cell
, What is deletion? - ANSWER:chromosome breaks apart during meiosis, and broken piece is lost
What is translocation? - ANSWER:misplaced chromosome, or part of it, attaches itself to another
chromosome
What is turner syndrome? - ANSWER:a chromosomal disorder in which a female is only born with one X
chromosome
characteristics:
- can cause developmental problems, such as height or failure for the ovaries to develop
What is triple X syndrome? - ANSWER:an abnormality resulting in an extra X chromosome in some
females
What is Klinefelter syndrome? - ANSWER:a genetic condition in which a male is born with an extra copy
of the X chromosome
characteristics:
- can cause the formation of breasts and minimal facial or body hair
What is XYY syndrome? - ANSWER:a genetic condition in which a male has an extra Y chromosome
characteristics:
- can result in an abnormality of height, learning problems, more acne, etc.
What is fragile X syndrome? - ANSWER:the abnormality of the X chromosome on its tip
- women pass it to daughters and sons
- men pass it to daughters
Which chromosome does down syndrome affect? - ANSWER:21
What is translocation down syndrome? (14/21) - ANSWER:chromosome 21 is fused with chromosome 14
or another chromosome; chromosome number is not increased, but genetic material is equivalent to 47
chromosomes
What are the causes of translocation down syndrome? - ANSWER:- translocation accidentally occurred
during gametogenesis in the germ cells
- parent is a carrier
What are the possible outcomes of pregnancy in a parent who is a carrier of translocation down
syndrome? - ANSWER:normal, carrier, nonviable, down syndrome
What is the disease called when there is a trisomy on chromosome 13? - ANSWER:patau syndrome
characteristics:
- abnormal development of skull and brain
- abnormal eye development
