EMILLECT 2024/2025 ACADEMIC YEAR ©2024 EMILLECT. ALL RIGHTS RESERVED FIRST PUBLISH OCTOBER, 2024
NU 545 Unit 7 Study Guide with
Complete Solutions
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
Page 1/59
,EMILLECT 2024/2025 ACADEMIC YEAR ©2024 EMILLECT. ALL RIGHTS RESERVED FIRST PUBLISH OCTOBER, 2024
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. However, about 10 percent of carrier females have less than half the normal
Page 2/59
,EMILLECT 2024/2025 ACADEMIC YEAR ©2024 EMILLECT. ALL RIGHTS RESERVED FIRST PUBLISH OCTOBER, 2024
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
Page 3/59
, EMILLECT 2024/2025 ACADEMIC YEAR ©2024 EMILLECT. ALL RIGHTS RESERVED FIRST PUBLISH OCTOBER, 2024
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, 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
Page 4/59
NU 545 Unit 7 Study Guide with
Complete Solutions
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
Page 1/59
,EMILLECT 2024/2025 ACADEMIC YEAR ©2024 EMILLECT. ALL RIGHTS RESERVED FIRST PUBLISH OCTOBER, 2024
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. However, about 10 percent of carrier females have less than half the normal
Page 2/59
,EMILLECT 2024/2025 ACADEMIC YEAR ©2024 EMILLECT. ALL RIGHTS RESERVED FIRST PUBLISH OCTOBER, 2024
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
Page 3/59
, EMILLECT 2024/2025 ACADEMIC YEAR ©2024 EMILLECT. ALL RIGHTS RESERVED FIRST PUBLISH OCTOBER, 2024
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, 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
Page 4/59
