NU 545
Unit 7 Study Guide
Advanced Pathophysiology
University of South Alabama.
This document provides a focused
study guide
It summarizes key concepts, lecture highlights, and
exam-relevant material to support efficient last-minute
review. The guide is structured to help students
reinforce understanding, identify weak areas, and prepare
confidently for the assessment.
, 1
Chapters 4-6; Chapters 12-14; Chapters 47-50
Describe the specific chromosomal abnormality responsible for Down syndrome (page 144)
o Aneuploidy
o Trisomy of the 21st chromosome
Causes of mental retardation
o Hallmark of fragile X syndrome
Mental retardation
What gene abnormality causes cystic fibrosis
o Autosomal recessive gene (page 151-152)
o Which of the following statements is true about an individual who is a carrier for the cystic
fibrosis (CF) gene? (Hint: the CF gene is recessive)
Heterozygous; does not suffer from CF
o The gene defect on the long arm of chromosome 7 in cystic fibrosis results in:
defective chloride transportation, causing abnormally thick mucus.
How is a recessive disease inherited?
o Allele whose effects are hidden – recessive
o For recessive allele to be expressed, it must exist in homozygote form (aa)
Inheritance of Hemophilia A
o (page 1007)
Changes in F8 gene
F8 gene provides instructions for making protein coag VIII
X linked recessive
One altered copy causes disorder in males
Females are carries
Inversions in introns 1&22 of factor VIII
Point mutations
o (Page 151)
Base substitution resulting in single amino acid change (a missense mutation) –
mild form of disease
Nonsense mutation (produces a stop codon & premature termination of
translation) more severe form
Risk factors for DM II; why is obesity an important risk factor in DM II? (page 172-173)
o TCF7L2 – encodes transcription factor involved in secretion of insulin
o PPAR-y – nuclear receptor involved in adipocyte differentiation & glucose metabolism
o KCNJ11 – encodes K+ channel necessary for glucose stimulated insulin secretion
o 2 most important risk factors= obesity & positive family history
o obesity is r/t insulin resistance
Definition of carcinoma – cancer arising from epithelial tissue (page 347)
How do cancer cells gain access to the circulation? (page 364-366)
o Figure 12.19 (page 365) ***
o Metastasis: Is the spread of cancer cells from the site of the original tumor to distant
tissues and organs through the body
o Changes in tumor microenivornment initate metastic process & may include stromal
adaptation to increase tumor mass and intratumor hypoxia
o Epithelial-mesenchymal transition (EMT)
Carcinomas orginate from highly differentiated & polarized epithelial cells that
form structured sheets stabilized by multiple adherances to neighboring cells & to
a basement membrane along cells basal surface
Basement membrane – extracell meshwork of collages & other connective
tissue proteins
, 2
Neoplastic cells retain some epithelial like characteristics that prevent dissociation
from EC matrix & preclude successful metastasis to distal sites
Greater degree of cell “dedifferentiation” needed to produce phenotype to separate
primary tumor
This results from programmed transition of still partially epithelial like
carcinoma to a more undifferentiated mesenchymal like phenotype
EMT= occurs during embryonic development, wound healing, & tissue repair
Many epithelial-like characteristics (e.g., polarity, adhesion to basement
membrane) are lost.
Migratory capacity increases
Resistance to apoptosis increases
Dedifferentiation to a stem cell-like state favors growth in foreign
microenvironments and the establishment of metastatic disease
Transition to mesenchymal like phenotype = driven by cytokines &
chemokines
o IL8 = effective driver of carcinoma cells into EMT
o Invasion: Local spread
Is a prerequisite for metastasis & 1st step in the metastatic process
Includes diminished cell to cell adhestion, digestion of ECM, increase motility of
cells
TGF-B induces changes in Ecadherin (integral component of tight junction) and B4
integrin in mammary gland tumor cells
Loss of E cadherin—allows cells to detach from ECM & migrate more
readily
TAMS & other stromal cells secrete protease & protease activators such as MMPs
and plasminogen activators that promote digestion of connective tissue capsules
and other structural barriers
Proteases digest the extracellular matrix and basement membranes
Create pathways through which cells can move
o To transition from local to distant metastasis, cancer cells must be able to invade local
blood & lymphatic vessels
Task facilitated by stimulation of neoangiogenesis & lymphangiogenesis by factors
such as VEGF
After release of ECM & digestion of basement membrane…. Cancer cells gain access
to circulation facilitated by leaky newly made vessels & attraction of cells b/c of
chemoattractants coming from new vessels
o Once in circulation, must be able to withstand stress such as high shear rates & exposure
to immune cells
Tumor cells bind to platelets
Protective coat of nonmalignant blood cells that shields cells and crease
small tumor embolus, promotes cell survival
o Neovascularization of cancer offers malignant cells direct access into venous blood &
lymphatic vessels
Venous & lymphatic drainage network determines pattern of metastasis
Cancer often spreads 1st to lymphatic’s and then to organs through blood
What is adjuvant chemotherapy?
Most common time childhood cancers are diagnosed: During times of peak physical growth
DES exposure prenatally
o Prenatal exposure to DES can result in which type of cancer?
A. Breast-cancer
B. Leukemia
C. Vaginal cancer
D. Lymphoma
Unit 7 Study Guide
Advanced Pathophysiology
University of South Alabama.
This document provides a focused
study guide
It summarizes key concepts, lecture highlights, and
exam-relevant material to support efficient last-minute
review. The guide is structured to help students
reinforce understanding, identify weak areas, and prepare
confidently for the assessment.
, 1
Chapters 4-6; Chapters 12-14; Chapters 47-50
Describe the specific chromosomal abnormality responsible for Down syndrome (page 144)
o Aneuploidy
o Trisomy of the 21st chromosome
Causes of mental retardation
o Hallmark of fragile X syndrome
Mental retardation
What gene abnormality causes cystic fibrosis
o Autosomal recessive gene (page 151-152)
o Which of the following statements is true about an individual who is a carrier for the cystic
fibrosis (CF) gene? (Hint: the CF gene is recessive)
Heterozygous; does not suffer from CF
o The gene defect on the long arm of chromosome 7 in cystic fibrosis results in:
defective chloride transportation, causing abnormally thick mucus.
How is a recessive disease inherited?
o Allele whose effects are hidden – recessive
o For recessive allele to be expressed, it must exist in homozygote form (aa)
Inheritance of Hemophilia A
o (page 1007)
Changes in F8 gene
F8 gene provides instructions for making protein coag VIII
X linked recessive
One altered copy causes disorder in males
Females are carries
Inversions in introns 1&22 of factor VIII
Point mutations
o (Page 151)
Base substitution resulting in single amino acid change (a missense mutation) –
mild form of disease
Nonsense mutation (produces a stop codon & premature termination of
translation) more severe form
Risk factors for DM II; why is obesity an important risk factor in DM II? (page 172-173)
o TCF7L2 – encodes transcription factor involved in secretion of insulin
o PPAR-y – nuclear receptor involved in adipocyte differentiation & glucose metabolism
o KCNJ11 – encodes K+ channel necessary for glucose stimulated insulin secretion
o 2 most important risk factors= obesity & positive family history
o obesity is r/t insulin resistance
Definition of carcinoma – cancer arising from epithelial tissue (page 347)
How do cancer cells gain access to the circulation? (page 364-366)
o Figure 12.19 (page 365) ***
o Metastasis: Is the spread of cancer cells from the site of the original tumor to distant
tissues and organs through the body
o Changes in tumor microenivornment initate metastic process & may include stromal
adaptation to increase tumor mass and intratumor hypoxia
o Epithelial-mesenchymal transition (EMT)
Carcinomas orginate from highly differentiated & polarized epithelial cells that
form structured sheets stabilized by multiple adherances to neighboring cells & to
a basement membrane along cells basal surface
Basement membrane – extracell meshwork of collages & other connective
tissue proteins
, 2
Neoplastic cells retain some epithelial like characteristics that prevent dissociation
from EC matrix & preclude successful metastasis to distal sites
Greater degree of cell “dedifferentiation” needed to produce phenotype to separate
primary tumor
This results from programmed transition of still partially epithelial like
carcinoma to a more undifferentiated mesenchymal like phenotype
EMT= occurs during embryonic development, wound healing, & tissue repair
Many epithelial-like characteristics (e.g., polarity, adhesion to basement
membrane) are lost.
Migratory capacity increases
Resistance to apoptosis increases
Dedifferentiation to a stem cell-like state favors growth in foreign
microenvironments and the establishment of metastatic disease
Transition to mesenchymal like phenotype = driven by cytokines &
chemokines
o IL8 = effective driver of carcinoma cells into EMT
o Invasion: Local spread
Is a prerequisite for metastasis & 1st step in the metastatic process
Includes diminished cell to cell adhestion, digestion of ECM, increase motility of
cells
TGF-B induces changes in Ecadherin (integral component of tight junction) and B4
integrin in mammary gland tumor cells
Loss of E cadherin—allows cells to detach from ECM & migrate more
readily
TAMS & other stromal cells secrete protease & protease activators such as MMPs
and plasminogen activators that promote digestion of connective tissue capsules
and other structural barriers
Proteases digest the extracellular matrix and basement membranes
Create pathways through which cells can move
o To transition from local to distant metastasis, cancer cells must be able to invade local
blood & lymphatic vessels
Task facilitated by stimulation of neoangiogenesis & lymphangiogenesis by factors
such as VEGF
After release of ECM & digestion of basement membrane…. Cancer cells gain access
to circulation facilitated by leaky newly made vessels & attraction of cells b/c of
chemoattractants coming from new vessels
o Once in circulation, must be able to withstand stress such as high shear rates & exposure
to immune cells
Tumor cells bind to platelets
Protective coat of nonmalignant blood cells that shields cells and crease
small tumor embolus, promotes cell survival
o Neovascularization of cancer offers malignant cells direct access into venous blood &
lymphatic vessels
Venous & lymphatic drainage network determines pattern of metastasis
Cancer often spreads 1st to lymphatic’s and then to organs through blood
What is adjuvant chemotherapy?
Most common time childhood cancers are diagnosed: During times of peak physical growth
DES exposure prenatally
o Prenatal exposure to DES can result in which type of cancer?
A. Breast-cancer
B. Leukemia
C. Vaginal cancer
D. Lymphoma
