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NU 545 Unit 7 Study Guide with Complete Solutions

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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 d...

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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
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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




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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

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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




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