Pathophysiology NU545 UNIT 7
Chromosomes, Cancers, Burns, and
Shock Final Exam And Correct Answers.
Characteristics of Down Syndrome - Answer low nasal bridge -epicanthal folds -protruding tongue -low-
set, flat ears -Poor muscle tone -short stature
Patho Down Syndrome - Answer About 97% of cases are caused by nondisjunction during the
formation of one of the parent's metes of during early embryonic development. The remaining 3% result
from translocations.
Cystic Fibrosis - Answer An autosomal recessive inherited disorder that is associated with defective
epithelial chloride ion transport. Defective gene is located on chromosome 7.
Locus - Answer Each gene occupies a position along a chromosome
Alleles - Answer Genes at particular locus can take different forms (ie. They can be composed of
different nucleotides sequences).
Heterozygote - Answer In many loci the effects of one allele mask those of another when the two are
found together .
Dominant - Answer The allele whose effects are observable.
Recessive - Answer The allele whose effects are hidden.
Carrier - Answer An individual who has a disease-causing allele but is phenotypically normal.
Criteria for Autosomal Recessive - Answer 1. Males and females are affected in equal proportions
2. Consanguinity is sometimes present
, 3. The disease is seen in siblings but usually not in their parents
4. On the average, one fourth of the offspring of carrier parents will be affected.
Risk factors for Diabetes Mellitus 2 - Answer Age, Obesity, hypertension, physical inactivity, family Hx,
Metabolic Syndrome, and Polycystic Ovary syndrome.
Carcinoma - Answer Epithelial cell tumor.
-They originate from highly differentiated and polarized epithelial cells that form structured sheets
stabilized by multiple adherences to neighboring cells and to basement membrane (an extracellular
meshwork of collagens and other connective tissue proteins) along the cells' basal surface.
Neovascularization - Answer New tumor-associated blood vessel growth or angiogenesis. It offers
malignant cells direct access into the venous blood, and draining lymphatics can carry malignant cells to
regional lymph nodes.
Adjuvant Chemotherapy - Answer Chemotherapy given after surgical excision of a cancer with the goal
of eliminating micrometastases.
Induction chemotherapy - Answer Seeks to cause shrinkage or disappearance of tumors.
Neoadjuvant chemotherapy - Answer Is given before localized treatment of cancer (radiation or
surgical).
DES - Answer A drug prescribed by physicians from 1938-1971 to prevent spontaneous miscarriage in
women with previous miscarriage.
-In 1971 it was identified as a transplacental chemical carcinogen b/c a small percentage of the
daughters of the women who took this drug developed adenocarcinoma of the vagina and cervix.
Proto-oncogenes - Answer Genes which code for proteins that help to 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.
Chromosomes, Cancers, Burns, and
Shock Final Exam And Correct Answers.
Characteristics of Down Syndrome - Answer low nasal bridge -epicanthal folds -protruding tongue -low-
set, flat ears -Poor muscle tone -short stature
Patho Down Syndrome - Answer About 97% of cases are caused by nondisjunction during the
formation of one of the parent's metes of during early embryonic development. The remaining 3% result
from translocations.
Cystic Fibrosis - Answer An autosomal recessive inherited disorder that is associated with defective
epithelial chloride ion transport. Defective gene is located on chromosome 7.
Locus - Answer Each gene occupies a position along a chromosome
Alleles - Answer Genes at particular locus can take different forms (ie. They can be composed of
different nucleotides sequences).
Heterozygote - Answer In many loci the effects of one allele mask those of another when the two are
found together .
Dominant - Answer The allele whose effects are observable.
Recessive - Answer The allele whose effects are hidden.
Carrier - Answer An individual who has a disease-causing allele but is phenotypically normal.
Criteria for Autosomal Recessive - Answer 1. Males and females are affected in equal proportions
2. Consanguinity is sometimes present
, 3. The disease is seen in siblings but usually not in their parents
4. On the average, one fourth of the offspring of carrier parents will be affected.
Risk factors for Diabetes Mellitus 2 - Answer Age, Obesity, hypertension, physical inactivity, family Hx,
Metabolic Syndrome, and Polycystic Ovary syndrome.
Carcinoma - Answer Epithelial cell tumor.
-They originate from highly differentiated and polarized epithelial cells that form structured sheets
stabilized by multiple adherences to neighboring cells and to basement membrane (an extracellular
meshwork of collagens and other connective tissue proteins) along the cells' basal surface.
Neovascularization - Answer New tumor-associated blood vessel growth or angiogenesis. It offers
malignant cells direct access into the venous blood, and draining lymphatics can carry malignant cells to
regional lymph nodes.
Adjuvant Chemotherapy - Answer Chemotherapy given after surgical excision of a cancer with the goal
of eliminating micrometastases.
Induction chemotherapy - Answer Seeks to cause shrinkage or disappearance of tumors.
Neoadjuvant chemotherapy - Answer Is given before localized treatment of cancer (radiation or
surgical).
DES - Answer A drug prescribed by physicians from 1938-1971 to prevent spontaneous miscarriage in
women with previous miscarriage.
-In 1971 it was identified as a transplacental chemical carcinogen b/c a small percentage of the
daughters of the women who took this drug developed adenocarcinoma of the vagina and cervix.
Proto-oncogenes - Answer Genes which code for proteins that help to 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.
