NU 545 UNIT 7 QUESTIONS AND ANSWERS GRADED A+ GUARANTEED PASS
Describe the specific chromosomal abnormality responsible for Down Syndrome - (ANSWER)The most
well known aneuploidy (those that do not contain a multiple of 23 chromosomes) in an autosome is
trisomy of the 21st chromosome. J. Langdon Down 1st described the the disease in 1866. Down
syndrome is seen in 1 in 800 births. IQ's between 25 and 70. Facial features: low nasal bridge, epicentral
folds, protruding tongue, and flat low set ears. Congenital heart defects in 1/3 to 1/2 of live born
children. Decreased ability to fight respiratory conditions and an increased susceptibility to leukemia. By
age 40 symptoms resembling Alzheimer develop. 97% of Down Syndrome's cases are caused by
nondisjunction during the formation of one of the parent's gametes or during early embryonic
development. 3% from translocations. Risk increases with maternal age.
Causes of mental retardation. - (ANSWER)Chromosomal abnormalities.
What gene abnormality causes cystic fibrosis? - (ANSWER)Like autosomal dominant diseases, those
caused by autosomal recessive alleles are rare in populations, although the number of carriers for
recessive diseases can be high. The most common lethal recessive disease in white children, cystic
fibrosis, occurs in about 1 in 2500 births. Approximately 1 in 25 whites carries one copy of an allele that
can cause cystic fibrosis (see Chapter 36). Because an individual must be homozygous for a recessive
allele to express thedisease, the carriers are phenotypically normal. Because most recessive alleles are
maintained innormal carriers, they are able to survive in the population from one generation to the
next. As with many autosomal dominant diseases, many autosomal recessive diseases are characterized
by delayed age of onset, incomplete penetrance, and variable expressivity.
How is a recessive gene inherited? - (ANSWER)Autosomal recessive diseases occur when both parents
are carriers of the same disease and their child inherits an altered gene from each of them. Children of
carrier parents have:A 25% chance of inheriting two altered genes and developing the disease.
Inheritance of Hemophilia A? - (ANSWER)Hemophilia A and hemophilia B are inherited in an X-linked
recessive pattern. The genes associated with these conditions are located on the X chromosome, which
is one of the two sex chromosomes. In males (who have only one X chromosome), one altered copy of
the gene in each cell is sufficient to cause the condition. In females (who have two X chromosomes), a
mutation would have to occur in both copies of the gene to cause the disorder. Because it is unlikely
that females will have two altered copies of this gene, it is very rare for females to have hemophilia. A
characteristic of X-linked inheritance is that fathers cannot pass X-linked traits to their sons.
Inheritance of Hemophilia A? - (ANSWER)In X-linked recessive inheritance, a female with one altered
copy of the gene in each cell is called a carrier. Carrier females have about half the usual amount of
coagulation factor VIII or coagulation factor IX, which is generally enough for normal blood clotting.
,NU 545 UNIT 7 QUESTIONS AND ANSWERS GRADED A+ GUARANTEED PASS
However, about 10 percent of carrier females have less than half the normal amount of one of these
coagulation factors; these individuals are at risk for abnormal bleeding, particularly after an injury,
surgery, or tooth extraction.
Risk factors for DM II; why is obesity an important risk factor for DM II? - (ANSWER)An important risk
factor is TCF7L2 which encodes a transcription factor involved in the secretion of insulin. Another
association has been found between a common allele of the gene that incomes peroxisome proliferator-
activated receptor gamma (PPAR-y), a nuclear receptor that is involved in adipocyte differentiation and
glucose metabolism. This receptor is the target of thiazolidinediones (TZD's) a class of drugs commonly
used to increase insulin sensitivity in those with type 2 diabetes. The 2 most important risk factors for
DM II are positive family history and obesity; the latter increases insulin resistance.
Definition of carcinoma - (ANSWER)Cancer arising from in epithelial cells
How do cancer cells gain access to the circulation? - (ANSWER)cells gain access to circulation through
new tumor-associated blood vessels or angiongesis
Mobile tumor cells are able to enter circulation (leakly newsly made blood vessels)
once in circulation, cells must be able to withstand the physiological stress of travel in the blood and
lymphatic circulation
Sometimes they bind to blood platelets=protect themselves
What is adjuvant chemotherapy? - (ANSWER)Adjuvant chemotherapy is an approach to fighting cancer
that combines different forms of healing. Chemotherapy and radiation, or chemotherapy and surgery
are used together. Usually the chemotherapy will be used after all of the known and visible cancer has
been removed surgically or with radiation. Adjuvant chemotherapy aims to destroy hidden cancer cells
that remain but are undetectable.
Adjuvant means additional. Adjuvant chemotherapy is given to patients after primary treatment, when
the doctor thinks there is a high risk the cancer will return. After a primary treatment of surgery or
radiation, adjuvant chemotherapy reduces the risk of recurrence. The elimination of undetectable
microscopic cancer cells that may have traveled to other parts of the body is the goal of adjuvant
chemotherapy.
When adjuvant chemotherapy doesn't result in a full cure it does make the intervals between a cancer
relapse longer. Adjuvant chemotherapy typically begins within three to five weeks of the surgical
removal of the cancer and has different treatment lengths depending on the cancer. For breast cancer,
,NU 545 UNIT 7 QUESTIONS AND ANSWERS GRADED A+ GUARANTEED PASS
the adjuvant chemotherapy is administered for three to nine months. In the case of colon cancer,
treatment rarely last more than six months.
Most common time childhood cancers are diagnosed? - (ANSWER)Childhood and adolescent cancers are
often associated with specific peak times of physical growth and may occur as a consequence altered
cellular regulatory mechanisms at a given time in the child or adolescents development. Embryonal
tumors most often develop before the age of 5 years, acute lymphoblastic leukemia occurs most often
in younger children, and bone tumors occur most often in adolescents.
DES exposure prenatally - (ANSWER)Diethylstibestrol (DES) which was prescribed by physicians to treat
spontaneous miscarriage. Identified as a transplacental chemical carcinogen because a small percentage
of the daughters of the women who took DES developed adenocarcinomas or the vagina and cervix.
Where do most childhood cancers arise from? - (ANSWER)Most childhood and adolescent cancers arise
from the mesodermal germ layer that gives rise to the connective tissue, bone, cartilage, muscle, blood,
blood vessels, gonads, kidney, and the lymphatic system. Leukemia and brain tumors account for 61% of
childhood cancers.
Pediatric cancers and the N-myc oncogene. - (ANSWER)Oncogenes and tumor suppressor genes are
associated with the development of childhood cancer. Proto-oncogenes code for proteins that help
regulate normal cell growth and differentiation. If mutated, proto-oncogenes become oncogenes that
help to turn normal cells into cancer cells. Changes produced by specific oncogenes cause the cell cycle
to become dysregulated. An example of an oncogene identified in pediatric cancer is N-myc,which is
involved in neuroblastoma and glioblastoma. Tumor-suppressor genes arise from genes that normally
suppress cancer cell proliferation but have lost their suppressor function, thus leading to uncontrolled
growth. Some childhood cancers identified with tumor-suppressor genes include osteosarcoma,
leukemia, rhabdomyosarcoma, retinoblastoma, and Wilms tumor.
Gland responsible for thermoregulation and cooling? - (ANSWER)The eccrine sweat glands are
distributed over the body, with the greatest numbers in the palms of the hands, soles of the feet, and
forehead. These secretions are important in thermoregulation and cooling of the body through
evaporation.
Clinical manifestation of pressure ulcers. - (ANSWER)Pressure ulcers are ischemic ulcers resulting from
unrelieved pressure, shearing forces, friction, and moisture. Decubitus ulcer refers to an ulcer or
pressure sore that results when an individuallies or sits in one position for a long time. Individuals with
, NU 545 UNIT 7 QUESTIONS AND ANSWERS GRADED A+ GUARANTEED PASS
darkly pigmented skin are at greater risk because early sings of skin damage may not be clearly
visible.Usually develop over bony prominences.
Braden scale for staging:
I- Non blanchable erythema of intact skin usually over a bony prominence
II- Partial thickness skin loss involving epidermis or dermis presenting as a shallow open ulcer with a red-
pink wound bed, without slough
III- Full thickness skin loss involving damage or necrosis of the subcutaneous tissue that may extend to
but not through the fascia
IV- Full thickness tissue loss with exposure of muscle, bone or supporting structures can
includeundermining and tunneling
Suspected deep tissue injury is localized in an area of purple or maroon discolored intact skin or blood
filled blister caused by underlying soft tissue damage from pressure and/or shear. Unstageable means
the ulcer is full thickness tissue loss with base of ulcer covered by slough or eschar or both in the wound
bed. Superficial damage results in a layer of dead tissue that appears as a blister, erosion, or non
blanchable red/darkened skin or as a reddish blue discoloration when there is deeper tissue damage.
More common on the sacrum and a result of shearing or friction forces. Deep sores develop closer to
the bone as a result of tissue distortion and vascular occlusion from pressure that is perpendicular to the
tissue. Commonly occur on the heels, trochanter, and ischia
Keloids: patho and clinical manifestations. - (ANSWER)Round firm elevated scars with irregular claylike
margins that extend beyond the original site of injury. They are most commonly in darkly pigmented skin
types and generally appear weeks to months after a stable scar has formed. Keloids have excessive
deposition of fibroblast-derived extracellular matrix proteins, particularly type I and III collagen with
persistent inflammation and fibrosis. Keloids first appear as pink or red firm, well-defined rubbery
plaques that persist for several months after trauma. Later, uncontrolled overgrowth causes extension
beyond the site of the original wound, and the tumor becomes smoother, irregularly shaped, hyper
pigmented, and harder with claylike prolongations.
Plaque psoriasis - (ANSWER)Plaque psoriasis is the most common and affects 80-90% of individuals with
psoriasis. Early onset psoriasis is an inflammatory lesion with epidermal hyper proliferation, the
presence of activated T lymphocytes and numerous cytokines including, IL-I, IL-6, IL-17, OL-22, TNF-a,
and TNF-y.
Inverse psoriasis - (ANSWER)Rare and involves lesions that develop in skin folds. Often misdiagnosed as
a fungal infection, they are large, smooth, dry, and deep red.
Describe the specific chromosomal abnormality responsible for Down Syndrome - (ANSWER)The most
well known aneuploidy (those that do not contain a multiple of 23 chromosomes) in an autosome is
trisomy of the 21st chromosome. J. Langdon Down 1st described the the disease in 1866. Down
syndrome is seen in 1 in 800 births. IQ's between 25 and 70. Facial features: low nasal bridge, epicentral
folds, protruding tongue, and flat low set ears. Congenital heart defects in 1/3 to 1/2 of live born
children. Decreased ability to fight respiratory conditions and an increased susceptibility to leukemia. By
age 40 symptoms resembling Alzheimer develop. 97% of Down Syndrome's cases are caused by
nondisjunction during the formation of one of the parent's gametes or during early embryonic
development. 3% from translocations. Risk increases with maternal age.
Causes of mental retardation. - (ANSWER)Chromosomal abnormalities.
What gene abnormality causes cystic fibrosis? - (ANSWER)Like autosomal dominant diseases, those
caused by autosomal recessive alleles are rare in populations, although the number of carriers for
recessive diseases can be high. The most common lethal recessive disease in white children, cystic
fibrosis, occurs in about 1 in 2500 births. Approximately 1 in 25 whites carries one copy of an allele that
can cause cystic fibrosis (see Chapter 36). Because an individual must be homozygous for a recessive
allele to express thedisease, the carriers are phenotypically normal. Because most recessive alleles are
maintained innormal carriers, they are able to survive in the population from one generation to the
next. As with many autosomal dominant diseases, many autosomal recessive diseases are characterized
by delayed age of onset, incomplete penetrance, and variable expressivity.
How is a recessive gene inherited? - (ANSWER)Autosomal recessive diseases occur when both parents
are carriers of the same disease and their child inherits an altered gene from each of them. Children of
carrier parents have:A 25% chance of inheriting two altered genes and developing the disease.
Inheritance of Hemophilia A? - (ANSWER)Hemophilia A and hemophilia B are inherited in an X-linked
recessive pattern. The genes associated with these conditions are located on the X chromosome, which
is one of the two sex chromosomes. In males (who have only one X chromosome), one altered copy of
the gene in each cell is sufficient to cause the condition. In females (who have two X chromosomes), a
mutation would have to occur in both copies of the gene to cause the disorder. Because it is unlikely
that females will have two altered copies of this gene, it is very rare for females to have hemophilia. A
characteristic of X-linked inheritance is that fathers cannot pass X-linked traits to their sons.
Inheritance of Hemophilia A? - (ANSWER)In X-linked recessive inheritance, a female with one altered
copy of the gene in each cell is called a carrier. Carrier females have about half the usual amount of
coagulation factor VIII or coagulation factor IX, which is generally enough for normal blood clotting.
,NU 545 UNIT 7 QUESTIONS AND ANSWERS GRADED A+ GUARANTEED PASS
However, about 10 percent of carrier females have less than half the normal amount of one of these
coagulation factors; these individuals are at risk for abnormal bleeding, particularly after an injury,
surgery, or tooth extraction.
Risk factors for DM II; why is obesity an important risk factor for DM II? - (ANSWER)An important risk
factor is TCF7L2 which encodes a transcription factor involved in the secretion of insulin. Another
association has been found between a common allele of the gene that incomes peroxisome proliferator-
activated receptor gamma (PPAR-y), a nuclear receptor that is involved in adipocyte differentiation and
glucose metabolism. This receptor is the target of thiazolidinediones (TZD's) a class of drugs commonly
used to increase insulin sensitivity in those with type 2 diabetes. The 2 most important risk factors for
DM II are positive family history and obesity; the latter increases insulin resistance.
Definition of carcinoma - (ANSWER)Cancer arising from in epithelial cells
How do cancer cells gain access to the circulation? - (ANSWER)cells gain access to circulation through
new tumor-associated blood vessels or angiongesis
Mobile tumor cells are able to enter circulation (leakly newsly made blood vessels)
once in circulation, cells must be able to withstand the physiological stress of travel in the blood and
lymphatic circulation
Sometimes they bind to blood platelets=protect themselves
What is adjuvant chemotherapy? - (ANSWER)Adjuvant chemotherapy is an approach to fighting cancer
that combines different forms of healing. Chemotherapy and radiation, or chemotherapy and surgery
are used together. Usually the chemotherapy will be used after all of the known and visible cancer has
been removed surgically or with radiation. Adjuvant chemotherapy aims to destroy hidden cancer cells
that remain but are undetectable.
Adjuvant means additional. Adjuvant chemotherapy is given to patients after primary treatment, when
the doctor thinks there is a high risk the cancer will return. After a primary treatment of surgery or
radiation, adjuvant chemotherapy reduces the risk of recurrence. The elimination of undetectable
microscopic cancer cells that may have traveled to other parts of the body is the goal of adjuvant
chemotherapy.
When adjuvant chemotherapy doesn't result in a full cure it does make the intervals between a cancer
relapse longer. Adjuvant chemotherapy typically begins within three to five weeks of the surgical
removal of the cancer and has different treatment lengths depending on the cancer. For breast cancer,
,NU 545 UNIT 7 QUESTIONS AND ANSWERS GRADED A+ GUARANTEED PASS
the adjuvant chemotherapy is administered for three to nine months. In the case of colon cancer,
treatment rarely last more than six months.
Most common time childhood cancers are diagnosed? - (ANSWER)Childhood and adolescent cancers are
often associated with specific peak times of physical growth and may occur as a consequence altered
cellular regulatory mechanisms at a given time in the child or adolescents development. Embryonal
tumors most often develop before the age of 5 years, acute lymphoblastic leukemia occurs most often
in younger children, and bone tumors occur most often in adolescents.
DES exposure prenatally - (ANSWER)Diethylstibestrol (DES) which was prescribed by physicians to treat
spontaneous miscarriage. Identified as a transplacental chemical carcinogen because a small percentage
of the daughters of the women who took DES developed adenocarcinomas or the vagina and cervix.
Where do most childhood cancers arise from? - (ANSWER)Most childhood and adolescent cancers arise
from the mesodermal germ layer that gives rise to the connective tissue, bone, cartilage, muscle, blood,
blood vessels, gonads, kidney, and the lymphatic system. Leukemia and brain tumors account for 61% of
childhood cancers.
Pediatric cancers and the N-myc oncogene. - (ANSWER)Oncogenes and tumor suppressor genes are
associated with the development of childhood cancer. Proto-oncogenes code for proteins that help
regulate normal cell growth and differentiation. If mutated, proto-oncogenes become oncogenes that
help to turn normal cells into cancer cells. Changes produced by specific oncogenes cause the cell cycle
to become dysregulated. An example of an oncogene identified in pediatric cancer is N-myc,which is
involved in neuroblastoma and glioblastoma. Tumor-suppressor genes arise from genes that normally
suppress cancer cell proliferation but have lost their suppressor function, thus leading to uncontrolled
growth. Some childhood cancers identified with tumor-suppressor genes include osteosarcoma,
leukemia, rhabdomyosarcoma, retinoblastoma, and Wilms tumor.
Gland responsible for thermoregulation and cooling? - (ANSWER)The eccrine sweat glands are
distributed over the body, with the greatest numbers in the palms of the hands, soles of the feet, and
forehead. These secretions are important in thermoregulation and cooling of the body through
evaporation.
Clinical manifestation of pressure ulcers. - (ANSWER)Pressure ulcers are ischemic ulcers resulting from
unrelieved pressure, shearing forces, friction, and moisture. Decubitus ulcer refers to an ulcer or
pressure sore that results when an individuallies or sits in one position for a long time. Individuals with
, NU 545 UNIT 7 QUESTIONS AND ANSWERS GRADED A+ GUARANTEED PASS
darkly pigmented skin are at greater risk because early sings of skin damage may not be clearly
visible.Usually develop over bony prominences.
Braden scale for staging:
I- Non blanchable erythema of intact skin usually over a bony prominence
II- Partial thickness skin loss involving epidermis or dermis presenting as a shallow open ulcer with a red-
pink wound bed, without slough
III- Full thickness skin loss involving damage or necrosis of the subcutaneous tissue that may extend to
but not through the fascia
IV- Full thickness tissue loss with exposure of muscle, bone or supporting structures can
includeundermining and tunneling
Suspected deep tissue injury is localized in an area of purple or maroon discolored intact skin or blood
filled blister caused by underlying soft tissue damage from pressure and/or shear. Unstageable means
the ulcer is full thickness tissue loss with base of ulcer covered by slough or eschar or both in the wound
bed. Superficial damage results in a layer of dead tissue that appears as a blister, erosion, or non
blanchable red/darkened skin or as a reddish blue discoloration when there is deeper tissue damage.
More common on the sacrum and a result of shearing or friction forces. Deep sores develop closer to
the bone as a result of tissue distortion and vascular occlusion from pressure that is perpendicular to the
tissue. Commonly occur on the heels, trochanter, and ischia
Keloids: patho and clinical manifestations. - (ANSWER)Round firm elevated scars with irregular claylike
margins that extend beyond the original site of injury. They are most commonly in darkly pigmented skin
types and generally appear weeks to months after a stable scar has formed. Keloids have excessive
deposition of fibroblast-derived extracellular matrix proteins, particularly type I and III collagen with
persistent inflammation and fibrosis. Keloids first appear as pink or red firm, well-defined rubbery
plaques that persist for several months after trauma. Later, uncontrolled overgrowth causes extension
beyond the site of the original wound, and the tumor becomes smoother, irregularly shaped, hyper
pigmented, and harder with claylike prolongations.
Plaque psoriasis - (ANSWER)Plaque psoriasis is the most common and affects 80-90% of individuals with
psoriasis. Early onset psoriasis is an inflammatory lesion with epidermal hyper proliferation, the
presence of activated T lymphocytes and numerous cytokines including, IL-I, IL-6, IL-17, OL-22, TNF-a,
and TNF-y.
Inverse psoriasis - (ANSWER)Rare and involves lesions that develop in skin folds. Often misdiagnosed as
a fungal infection, they are large, smooth, dry, and deep red.
