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Nurs 6501 Midterm Exam Review Guide (Weeks
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1-6)
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sh
Sp
Cellular Processes and the Genetic Environment
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1.Describe cellular processes and alterations
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Sp
within cellular processes.
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Movement. Muscle cells can generate forces that
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produce motion. Muscles that are attached to bones
sh
Sp
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produce limb movements, whereas those that
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enclose hollow tubes or cavities move or empty
sh
contents when they contract. For example, the
Sp
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contraction of smooth muscle cells surrounding
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tz
blood vessels changes the diameter of the vessels;
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Sp
the contraction of muscles in walls of the urinary
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bladder expels urine.
la
sh
Conductivity. Conduction as a response to a
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stimulus is manifested by a wave of excitation, an
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electrical potential that passes along the surface of
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Sp
the cell to reach its other parts. Conductivity is the
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chief function of nerve cells.
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Metabolic absorption. All cells take in and use
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Sp
nutrients and other substances from their
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a
surroundings. Cells of the intestine and the kidney
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sh
are specialized to carry out absorption. Cells of the
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kidney tubules reabsorb fluids and synthesize
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Sp
1
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Downloaded by Martinez Wanjohi ()
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proteins. Intestinal epithelial cells reabsorb fluids
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and synthesize protein enzymes.
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sh
Secretion. Certain cells, such as mucous gland cells,
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can synthesize new substances from substances they
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absorb and then secrete the new substances to serve
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Sp
as needed elsewhere. Cells of the adrenal gland,
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testis, and ovary can secrete hormonal steroids.
la
tz
Excretion. All cells can rid themselves of waste
sh
Sp
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products resulting from the metabolic breakdown of
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nutrients. Membrane-bound sacs (lysosomes) within
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Sp
cells contain enzymes that break down, or digest,
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large molecules, turning them into waste products
la
tz
that are released from the cell.
sh
Sp
Respiration. Cells absorb oxygen, which is used to
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la
transform nutrients into energy in the form of
sh
adenosine triphosphate (ATP). Cellular respiration,
Sp
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or oxidation, occurs in organelles called
la
mitochondria.
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sh
Sp
Reproduction. Tissue growth occurs as cells
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enlarge and reproduce themselves. Even without
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growth, tissue maintenance requires that new cells
sh
Sp
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be produced to replace cells that are lost normally
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through cellular death. Not all cells are capable of
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sh
Sp
continuous division.
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la
sh
Sp
2
la
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, lOMoARcPSD|46020670
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sh
Communication. Communication is vital for cells
ne
la
to survive as a society of cells. Pancreatic cells, for
tz
sh
instance, secrete and release insulin necessary to
Sp
ne
signal muscle cells to absorb sugar from the blood
la
for energy. Constant communication allows the
sh
Sp
maintenance of a dynamic steady state.
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la
tz
2.What is the impact of the genetic
sh
Sp
ne
environment on disease?
la
Genetic diseases caused by single genes usually
sh
Sp
follow autosomal dominant, autosomal recessive, or
ne
X-linked recessive modes of inheritance. The
la
tz
recurrence risk for autosomal dominant diseases is
sh
Sp
ne
usually 50%. Germline mosaicism can alter
la
recurrence risks for genetic diseases because
sh
Sp
unaffected parents can produce multiple affected
ne
la
offspring. This situation occurs because the germline
tz
of one parent is affected by a mutation, but the
sh
Sp
ne
parent's somatic cells are unaffected. Skipped
la
generations are not seen in classic autosomal
sh
Sp
dominant pedigrees. Males and females are equally
ne
a
likely to exhibit autosomal dominant diseases and to
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sh
Sp
pass them on to their offspring. Penetrance may be
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age-dependent, as in Huntington disease and familial
la
sh
Sp
3
la
Downloaded by Martinez Wanjohi ()
Sp
, lOMoARcPSD|46020670
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sh
breast cancer. Most commonly, parents of children
ne
la
with autosomal recessive diseases are both
tz
sh
Sp
heterozygous carriers of the disease gene. In this
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case, the recurrence risk for autosomal recessive
la
diseases is 25%. Males and females are equally
sh
Sp
ne
likely to be affected by autosomal recessive diseases.
la
The frequency of genetic diseases approximately
tz
sh
Sp
doubles in the offspring of first-cousin matings. In
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each normal female somatic cell, one of the two X
la
sh
chromosomes is inactivated early in embryogenesis.
Sp
ne
X inactivation is random, fixed, and incomplete (i.e.,
la
tz
only part of the chromosome is actually inactivated).
sh
Sp
It may involve methylation. Gender is determined
ne
la
embryonically by the presence of the SRY gene on
sh
the Y chromosome. Embryos that have a Y
Sp
ne
chromosome (and thus the SRY gene) become
la
tz
males, whereas those lacking the Y chromosome sh
Sp
ne
become females. When the Y chromosome lacks the
la
SRY gene, an XY female can be produced.
sh
Sp
Similarly, an X chromosome that contains the SRY
ne
gene can produce an XX male. X-linked genes are
a
tz
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those that are located on the X chromosome. Nearly
sh
Sp
ne
all known X-linked diseases are caused by X-linked
la
sh
Sp
4
la
Downloaded by Martinez Wanjohi ()
Sp
ne
sh
ne
Nurs 6501 Midterm Exam Review Guide (Weeks
la
1-6)
tz
sh
Sp
Cellular Processes and the Genetic Environment
ne
la
1.Describe cellular processes and alterations
sh
Sp
within cellular processes.
ne
Movement. Muscle cells can generate forces that
la
tz
produce motion. Muscles that are attached to bones
sh
Sp
ne
produce limb movements, whereas those that
la
enclose hollow tubes or cavities move or empty
sh
contents when they contract. For example, the
Sp
ne
contraction of smooth muscle cells surrounding
la
tz
blood vessels changes the diameter of the vessels;
sh
Sp
the contraction of muscles in walls of the urinary
ne
bladder expels urine.
la
sh
Conductivity. Conduction as a response to a
Sp
ne
stimulus is manifested by a wave of excitation, an
la
electrical potential that passes along the surface of
tz
sh
Sp
the cell to reach its other parts. Conductivity is the
ne
chief function of nerve cells.
la
Metabolic absorption. All cells take in and use
sh
Sp
nutrients and other substances from their
ne
a
surroundings. Cells of the intestine and the kidney
tz
l
sh
are specialized to carry out absorption. Cells of the
Sp
ne
kidney tubules reabsorb fluids and synthesize
la
sh
Sp
1
la
Downloaded by Martinez Wanjohi ()
Sp
, lOMoARcPSD|46020670
ne
sh
proteins. Intestinal epithelial cells reabsorb fluids
ne
and synthesize protein enzymes.
la
tz
sh
Secretion. Certain cells, such as mucous gland cells,
Sp
ne
can synthesize new substances from substances they
la
absorb and then secrete the new substances to serve
sh
Sp
as needed elsewhere. Cells of the adrenal gland,
ne
testis, and ovary can secrete hormonal steroids.
la
tz
Excretion. All cells can rid themselves of waste
sh
Sp
ne
products resulting from the metabolic breakdown of
la
nutrients. Membrane-bound sacs (lysosomes) within
sh
Sp
cells contain enzymes that break down, or digest,
ne
large molecules, turning them into waste products
la
tz
that are released from the cell.
sh
Sp
Respiration. Cells absorb oxygen, which is used to
ne
la
transform nutrients into energy in the form of
sh
adenosine triphosphate (ATP). Cellular respiration,
Sp
ne
or oxidation, occurs in organelles called
la
mitochondria.
tz
sh
Sp
Reproduction. Tissue growth occurs as cells
ne
enlarge and reproduce themselves. Even without
la
growth, tissue maintenance requires that new cells
sh
Sp
ne
be produced to replace cells that are lost normally
a
through cellular death. Not all cells are capable of
tz
l
sh
Sp
continuous division.
ne
la
sh
Sp
2
la
Downloaded by Martinez Wanjohi ()
Sp
, lOMoARcPSD|46020670
ne
sh
Communication. Communication is vital for cells
ne
la
to survive as a society of cells. Pancreatic cells, for
tz
sh
instance, secrete and release insulin necessary to
Sp
ne
signal muscle cells to absorb sugar from the blood
la
for energy. Constant communication allows the
sh
Sp
maintenance of a dynamic steady state.
ne
la
tz
2.What is the impact of the genetic
sh
Sp
ne
environment on disease?
la
Genetic diseases caused by single genes usually
sh
Sp
follow autosomal dominant, autosomal recessive, or
ne
X-linked recessive modes of inheritance. The
la
tz
recurrence risk for autosomal dominant diseases is
sh
Sp
ne
usually 50%. Germline mosaicism can alter
la
recurrence risks for genetic diseases because
sh
Sp
unaffected parents can produce multiple affected
ne
la
offspring. This situation occurs because the germline
tz
of one parent is affected by a mutation, but the
sh
Sp
ne
parent's somatic cells are unaffected. Skipped
la
generations are not seen in classic autosomal
sh
Sp
dominant pedigrees. Males and females are equally
ne
a
likely to exhibit autosomal dominant diseases and to
tz
l
sh
Sp
pass them on to their offspring. Penetrance may be
ne
age-dependent, as in Huntington disease and familial
la
sh
Sp
3
la
Downloaded by Martinez Wanjohi ()
Sp
, lOMoARcPSD|46020670
ne
sh
breast cancer. Most commonly, parents of children
ne
la
with autosomal recessive diseases are both
tz
sh
Sp
heterozygous carriers of the disease gene. In this
ne
case, the recurrence risk for autosomal recessive
la
diseases is 25%. Males and females are equally
sh
Sp
ne
likely to be affected by autosomal recessive diseases.
la
The frequency of genetic diseases approximately
tz
sh
Sp
doubles in the offspring of first-cousin matings. In
ne
each normal female somatic cell, one of the two X
la
sh
chromosomes is inactivated early in embryogenesis.
Sp
ne
X inactivation is random, fixed, and incomplete (i.e.,
la
tz
only part of the chromosome is actually inactivated).
sh
Sp
It may involve methylation. Gender is determined
ne
la
embryonically by the presence of the SRY gene on
sh
the Y chromosome. Embryos that have a Y
Sp
ne
chromosome (and thus the SRY gene) become
la
tz
males, whereas those lacking the Y chromosome sh
Sp
ne
become females. When the Y chromosome lacks the
la
SRY gene, an XY female can be produced.
sh
Sp
Similarly, an X chromosome that contains the SRY
ne
gene can produce an XX male. X-linked genes are
a
tz
l
those that are located on the X chromosome. Nearly
sh
Sp
ne
all known X-linked diseases are caused by X-linked
la
sh
Sp
4
la
Downloaded by Martinez Wanjohi ()
Sp
