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Pathophysiology, 5e 5th Edition By Lee-Ellen C. Copstead
Chapter 6: Genetic and Developmental Disorders
- Characteristics of X-linked (sex-linked) recessive disorders include
|a.||all daughters of affected fathers’ being carriers.|
|b.||boys’ and girls’ being equally affected.|
|c.||the son of a carrier female’s having a 25% chance of being affected.|
|d.||affected fathers’ transmitting the gene to all their sons.|
All daughters of affected fathers are carriers. X-linked (sex-linked) disorders affect primarily males. A carrier female has a 1 in 2 chance of producing an affected son. Affected fathers transmit the defective gene to none of their sons but to all their daughters.
REF: Pg. 103
- A fetus is most vulnerable to environmental teratogens during
|c.||the first trimester.|
|d.||the last trimester.|
Between the third and ninth week of gestation, the embryo is very vulnerable to teratogenesis, with the fourth and fifth weeks’ being the time of peak susceptibility. By birth, fetal development is complete and not vulnerable to environmental teratogens. Prior to the third week of gestation, either exposure to a teratogen generally damages so few cells that the embryo develops normally, or spontaneous abortion occurs due to major cell damage. Fetal insults occurring after the third month are more likely to result in growth retardation or injury to normally formed organs.
REF: Pg. 108
- Results of biochemical tests indicate an infant has phenylketonuria (PKU). The parents ask what PKU means. Correct responses would include all the following except PKU
|a.||is an enzyme deficiency resulting in the inability to metabolize phenylalanine.|
|b.||is an inborn error of metabolism.|
|c.||results from a chromosome abnormality called nondisjunction.|
|d.||is transmitted as an autosomal recessive disorder.|
PKU is not a chromosome abnormality, but instead a single-gene abnormality often referred to as inborn errors of metabolism. The other answer choices are true statements regarding PKU.
REF: Pgs. 100-103
- The parents of a child with PKU are concerned about the risk of transmitting the disorder in future pregnancies. The correct assessment of the risk is
|a.||each child has a 25% chance of being a carrier.|
|b.||each child has a 25% chance of being affected.|
|c.||since one child is already affected, the next three children will be unaffected.|
|d.||one cannot predict the risk for future pregnancies.|
As an autosomal recessive disorder, the mating of two carriers (heterozygous) results in a 1 in 4 chance of producing an affected offspring and a 2 in 4 chance of producing an offspring who carries the disease. The mating of two carriers (heterozygous) results in a 2 in 4 chance of producing an offspring who carries the disease. The mating of two carriers (heterozygous) results in a 1 in 4 chance of producing an affected offspring and a 2 in 4 chance of producing an offspring who carries the disease. One can predict the risk of future pregnancies.
REF: Pgs. 101-103
- Information parents should be given about the consequences of PKU includes
|a.||high dietary phenylalanine may help induce enzyme production.|
|b.||PKU is commonly associated with other congenital anomalies.|
|c.||failure to avoid phenylalanine results in progressive mental retardation.|
|d.||mental retardation is inevitable.|
Failure to avoid phenylalanine results in progressive mental retardation. Phenylketonuria (PKU) results from an inability to metabolize the amino acid phenylalanine due to lack of the enzyme phenylalanine hydroxylase. Intake of phenylalanine will not help induce enzyme production. This disorder is not necessarily associated with other congenital anomalies. Mental retardation can be prevented or lessened with avoidance of phenylalanine.
REF: Pg. 103
- Children with PKU must avoid phenylalanine in the diet. Phenylalanine is most likely to be a component of
Phenylalanine is an amino acid found in protein. Most fats, sugars, and carbohydrates do not contain phenylalanine.
REF: Pg. 103
- A point mutation
|a.||results from the addition or loss of one or more bases.|
|b.||is due to the translocation of a chromosomal segment.|
|c.||always produces significant dysfunction.|
|d.||involves the substitution of a single base pair.|
A point mutation involves a single base pair substitution. A point mutation does not result from the addition or loss of bases, or from translocation of a chromosomal segment, but rather from a substitution. The inclusion of the abnormal amino acid in the sequence of the protein due to a point mutation may or may not be of clinical significance.
REF: Pg. 95
- Males are more likely than females to be affected by ________ disorders.
Males are more likely than females to be affected by X-linked disorders. Females express the X-linked disease only in the rare instance in which both X chromosomes carry the defective gene. Males, however, do not have the safety margin of two X chromosomes and express the disease if their one and only X chromosome is abnormal. Males and females are equally affected by autosomal-dominant and autosomal-recessive disorders. Chromosomal nondisjunction means that paired homologous chromosomes fail to separate normally during either the first or second meiotic division, resulting in germ cells that have an abnormal number of chromosomes. This can occur in both males and females equally.
REF: Pg. 103
- The primary factor associated with risk of Down syndrome is
|a.||family history of heritable diseases.|
|b.||exposure to TORCH syndrome organisms.|
|c.||maternal alcohol intake.|
Advanced maternal age is associated with Down syndrome in the most common form of the disease. A family history of heritable disease is not the primary factor and occurs in only 4% of cases. Exposure to TORCH syndrome organisms is not a risk factor for Down syndrome. Maternal alcohol intake is not a risk factor for Down syndrome.
REF: Pgs. 98-99
- Cystic fibrosis is a single gene disorder that primarily affects
|a.||brain and heart.|
|b.||kidney and adrenals.|
|c.||lungs and pancreas.|
|d.||liver and intestine.|
The alteration in chloride transport associated with cystic fibrosis is associated with production of abnormally thick secretions in glandular tissues. The lung bronchioles and pancreatic ducts are primarily affected, often resulting in progressive destruction of these organs. The brain, heart, kidneys, and liver are not the primary organs affected with cystic fibrosis.
REF: Pg. 103
- Huntington disease is often transferred to offspring before a parent knows of the genetic possibility of this disease, because
|a.||symptoms are so mild that they are not recognized.|
|b.||symptoms often do not occur until approximately 40 years of age.|
|c.||genetic testing for the disease is not possible.|
|d.||the genetic alteration is rarely expressed.|
Signs of mental deterioration and involuntary muscle movements do not appear until approximately age 40. The delayed onset means the parent may transmit the disorder to offspring before he or she knows they have the disorder. Symptoms of Huntington’s disease are not necessarily mild, and are not the reason for delayed identification of the genetic susceptibility. Genetic testing for the disease is possible. The genetic alteration is expressed if the triplet repeats are greater than 40.
REF: Pg. 101
- Huntington disease primarily affects the _____ system.
Huntington disease primarily affects the neurologic system and leads to uncontrolled movement of the extremities. Huntington disease does not primarily affect the muscles, although the altered neural involvement secondarily causes involuntary movement of the arms and legs. It also does not affect the gastrointestinal and endocrine systems.
REF: Pg. 101
- The risk period for maternal rubella infection leading to congenital problems begins
|a.||prior to conception.|
|b.||during the last trimester.|
|d.||all through pregnancy.|
The risk period for maternal rubella infection begins prior to conception and extends to 20 weeks’ gestation, after which the virus rarely crosses the placenta. The virus rarely crosses the placenta after 20 weeks’ gestation. The virus does not cross the placenta at birth and would not cause congenital problems at this point. The risk period for maternal rubella infection begins prior to conception and extends to 20 weeks’ gestation, after which the virus rarely crosses the placenta.
REF: Pg. 109
- Characteristics of Marfan syndrome include that it (Select all that apply)
|a.||is a single-gene disorder.|
|b.||involves alterations in connective tissue.|
|c.||leads to skeletal and joint deformities.|
|d.||leads to short stocky build.|
|e.||results in dangerous cardiovascular disorders.|
ANS: A, B, C, E
Marfan syndrome is a single-gene disorder that involves alterations in connective tissue and leads to skeletal and joint deformities. The aorta weakens and may rupture and cardiac valves may malfunction. Individuals with Marfan syndrome are typically tall and slender, with long, thin arms and legs, rather than short and stocky.
REF: Pgs. 100-101
Chapter 7: Neoplasia
|a.||are the same as oncogenes.|
|b.||are normal cellular genes that promote growth.|
|c.||lead to abnormal tumor suppressor genes|
|d.||result from severe mutational events.|
Proto-oncogenes are normal cellular genes that promote growth. Proto-oncogenes are not the same as oncogenes, which are mutant proto-oncogenes. They are different from tumor suppressor genes and do not alter tumor suppressor genes. Mutational events lead to oncogenes, a mutated proto-oncogene.
REF: Pg. 120
- Familial retinoblastoma involves the transmission of what from parent to offspring?
|a.||Mutant tumor suppressor gene|
Familial retinoblastoma involves transmission of a mutant tumor-suppressor gene from parent to child. Familial retinoblastoma is not caused by a virus and does not involve an extra chromosome, but rather a single gene. Familial retinoblastoma is caused by a mutant tumor suppressor gene, not an oncogene, which is a mutated proto-oncogene.
REF: Pg. 123
- Your patient eats “lots of fat,” leads a “stressful” life, and has smoked “about two packs a day for the last 40 years.” Her chronic morning cough recently worsened, and she was diagnosed with a lung mass. The most likely contributing factor for development of lung cancer in this patient is
The most likely contributing factor for the development of lung cancer is cigarette smoking. Tobacco smoke contains hundreds of compounds, many of which have known genotoxicity and probably serve as initiators. Tobacco smoke also contains promoters, which spur the mutant cells to proliferate. Although a high-fat diet, urban pollutants, and a stressful lifestyle have been implicated in some types of cancer, they are not the likely contributing factor in your patient’s lung cancer.
REF: Pg. 116
- After bronchoscopy and histologic examination of a suspected tumor, your patient is diagnosed with primary bronchial carcinoma. Thus, the tumor
|c.||is secondary to cancer elsewhere in the body.|
Bronchial carcinoma is a malignant cancer of the epithelial lining of the bronchi. Carcinoma refers to a malignant tumor. Primary indicates that the cancer began in the lungs and did not metastasize from another site. A staging procedure must be done before knowing if the lung cancer has spread.
REF: Pgs. 114-116
- Your patient is scheduled for a staging procedure. She wants to know what that means. The correct response is which of the following?
|a.||It is a procedure for determining the extent of tumor spread.|
|b.||It is a histologic examination of tissues to determine the degree of tumor differentiation.|
|c.||Is based on exploratory surgery.|
|d.||It is biochemical testing of tumor cells to determine the genetic basis of the tumor.|
Staging describes the location and pattern of spread of a tumor. Staging does not involve biochemical testing of tumor cells, or the histologic examination of tissues, which is done with cancer grading. CT, MRI, and PET imaging techniques have allowed for noninvasive cancer detection.
REF: Pg. 131
- A patient with metastatic lung cancer wants to know her chances for survival. Which response is correct?
|a.||“Lung cancer is always fatal.”|
|b.||“Lung cancer has about a 15% survival rate.”|
|c.||“Lung cancer is highly curable when diagnosed early.”|
|d.||“Lung cancer death rate has decreased significantly, as with all other cancers.”|
Lung cancer has a 15% survival rate. Lung cancer is not always fatal, but is not highly curable at any stage of diagnosis. The death rate from lung cancer has increased dramatically.
REF: Pg. 116
- After surgery to remove a lung tumor, your patient is scheduled for chemotherapy, which will
|a.||selectively kill tumor cells.|
|b.||stimulate immune cells to fight the cancer.|
|c.||have minimal side effects.|
|d.||kill rapidly dividing cells.|
Chemotherapy kills rapidly dividing cells. Chemotherapy does not selectively kill tumor cells, but affects all rapidly dividing cells. Chemotherapy has many damaging side effects. Immunotherapy uses the power of the immune system and has the potential for targeting cancer cells.
REF: Pg. 136
- The most common tumor suppressor gene defect identified in cancer cells is
The most common tumor suppressor gene defect identified in cancer cells involves P53. More than half of all types of human tumors lack functional P53, which inhibits cell cycling. Rb, DC, and APC are not the most common tumor suppressor gene defects identified in cancer cells.
REF: Pg. 125
- Breast cancer in women who have the breast cancer gene
|a.||occurs at an earlier age.|
|b.||is more likely to be unilateral.|
|c.||is more common than non-inherited breast cancer.|
|d.||is more responsive to treatment.|
The age of onset of inherited breast cancer is earlier than the onset of non-inherited forms and the prevalence of bilateral breast cancer is higher. Breast cancer in women who have the breast cancer gene is less common (only 5% to 10% of all cases) than non-inherited breast cancer and is more likely to be bilateral. Response to treatment is not affected by whether the cancer gene is present.
REF: Pg. 125
- Malignant neoplasms of epithelial origin are known as
Carcinoma refers to malignant tumors of epithelial origin. Lymphoma refers to cancer of the lymphatic tissue. Sarcoma refers to malignant tumors of mesenchymal (nerve, bone, muscle) origin. Adenoma is a benign tumor of glandular tissue.
REF: Pgs. 114-115
- Retroviruses are associated with human cancers, including
At least three retroviruses are thought to be causative factors in some human cancers: HIV Kaposi sarcoma, Epstein-Barr in Burkitt lymphoma, and human T-lymphocyte type I in T-cell leukemia-lymphoma. The other answer options are not associated with a retrovirus.
REF: Pg. 122
- Cancer grading is based on
Grading refers to the histologic characterization of tumor cells and is basically a determination of the degree of anaplasia (lack of differentiation). The other answer options are associated with tumor staging.
REF: Pg. 131
- The hypermetabolic state leading to cachexia in terminal cancer is thought to be due to
|a.||tumor necrosis factor.|
|c.||loss of ATP production.|
Production of tumor necrosis factor (TNF) and other immune cytokines is thought to be important in producing the hypermetabolic state leading to cachexia in cancer. Angiogenesis is the development of new blood vessels to feed the tumor; it is not a cause of the hypermetabolic state leading to cachexia in terminal cancer. Loss of ATP production and pain medications are not causes of the hypermetabolic state leading to cachexia in terminal cancer.
REF: Pg. 131
- Paraneoplastic syndromes in cancer involve excessive production of substances by multiple means. A common substance found in excessive amounts due to cancer paraneoplastic syndromes is
|b.||tumor necrosis factor.|
Common paraneoplastic syndromes include hypercalcemia associated with abnormal production of parathyroid hormone-related protein by tumor cells. Insulin is a general growth factor for a number of tissues and may be implicated in development of some cancers, but it is not a cause of paraneoplastic syndromes. Tumor necrosis factor is associated with cachexia in cancer, but it is not associated with paraneoplastic disorders of cancer. Potassium is not found in excess amounts in cancer.
REF: Pg. 135
- Deficits in immune system function occur in cancer due to (Select all that apply.)
|c.||cancer metastasis to bone marrow.|
ANS: A, B, C, E
Cancer cells secrete substances that suppress the immune system. Bone marrow suppression may be due to invasion of blood-forming cells in the bone marrow, poor nutrition, and chemotherapeutic agents. By contrast, immunotherapy is a method of harnessing the immune system in the treatment of cancer.
REF: Pg. 131 | Pg. 134
- Tumor markers (Select all that apply.)
|a.||are found only in the blood.|
|b.||are produced by normal cells.|
|c.||help determine cancer origin.|
|d.||help identify progression of cancer.|
|e.||include prostatic-specific antigen.|
ANS: B, C, D, E
Tumor markers are substances associated with tumor cells that may be helpful in identifying their tissue of origin and progression and proliferation of cancer cells. Most tumor markers are not very specific for cancer since normal cells in the tissue of origin also produce them. Tumor markers include prostatic-specific antigen. Some tumor cell markers are released into the circulation, but others must be identified through biopsy of metastatic tissue.
REF: Pgs. 129-130
- Characteristics of telomerase include (Select all that apply.)
|a.||repairs the end caps of chromosomes.|
|b.||contributes to cancer cell immortality.|
|c.||is deficient in cancer cells.|
|d.||activity allows a cell to replicate indefinitely.|
ANS: A, B, D
Telomerase functions to repair the end caps of chromosomes. It contributes to cancer cell immortality by allowing a cell to replicate indefinitely. Telomerase is present in cancer cells at higher than normal levels.
REF: Pg. 128
- Side effects of chemotherapy include (Select all that apply.)
ANS: A, B, D, E
Chemotherapy leads to anemia, bleeding, and infections from bone marrow suppression and deficient production of RBS, platelets, and WBCs, respectively. Chemotherapy also causes nausea, a frequent and debilitating side effect. Chemotherapy causes leukopenia (reduction of WBCs).
REF: Pg. 131 | Pg. 136
- In general, a cancer cell that is more tissue-specific differentiated is ____ (more/less) likely to be aggressive.
The degree of tissue-specific differentiation predicts malignant potential. A lack of differentiated features in a cancer cell is called anaplasia, and a greater degree of anaplasia is correlated with a more aggressively malignant tumor.
REF: Pg. 114