NURS 6501 MIDTERM EXAM STUDY GUIDE, WEEK 1-6
Cellular Processes and the Genetic Environment
• Describe cellular processes and alterations within cellular processes
❖ The eight specialized cellular functions are movement,
conductivity, metabolic absorption, secretion, excretion,
respiration, reproduction, and communication.
❖ The chief functions of the nucleus are cell division and
control of genetic information.
❖ Importantly, the ER is responsible for protein folding and
sensing cell stress.
❖ Lysosomes are saclike structures that originate from the
Golgi complex and contain digestive enzymes. These
enzymes are responsible for digesting most cellular
substances completely to their basic components, such
as amino acids, fatty acids, and carbohydrates. A newly
understood role of lysosomes is nutrient-dependent signal
transduction. The signaling function cooperates with the
known degradative role to mediate basic cell functions,
such as nutrient sensing, metabolic adaptation, and
quality control of proteins and organelles. 8. Four
pathways of degradation in lysosomes include
endocytosis, phagocytosis, macropinocytosis, and
autophagy.
❖ . Mitochondria are found in great numbers in most cells
and are responsible for cellular respiration and energy
production. The enzymes of the respiratory chain
(electrontransport chain), found in the inner membrane of
the mitochondria, generate most of the cell’s ATP.
❖ The chemical tasks of maintaining essential cellular
functions are referred to as cellular metabolism.
Anabolism is the energy-using process of metabolism,
whereas catabolism is the energy-releasing process. 2.
ATP functions as an energy-transferring molecule. Energy
is stored by molecules of carbohydrate, lipid, and protein,
which, when catabolized, transfer energy to ATP. 3.
Oxidative phosphorylation occurs in the mitochondria and
is the mechanism by which the energy produced from
carbohydrates, fats, and proteins is transferred to ATP.
, ❖
• What is the impact of the genetic environment on disease?
❖ Family members share genes and a common environment;
therefore, resemblance in traits, such as high blood pressure,
reflects both genetic and environmental factors (nature and
nurture, respectively).
❖ A genetic predisposition may interact with an environmental-
lifestyle factor to increase the risk of disease; this is called a
gene-environment interaction.
❖ The complete human genome sequence will facilitate gene
identification, diagnosis, and disease treatment.
❖ An individual’s genotype is the person’s genetic makeup, and
the phenotype reflects the interaction of genotype and
environment.
❖ Environmental factors, such as diet and exposure to certain
chemicals, may cause epigenetic modifications.
❖
• Explain how healthy cell activity contributes to good health and how
its breakdown in cellular behavior and alterations to cells lead to
health issue.
• What are the roles genetics plays in disease processes?
❖ Changes in many genes, each with a small effect, may underlie
susceptibility to many common diseases, including cancer,
obesity, diabetes, heart disease, and mental illness. In people
with a genetic predisposition, the risk of disease can depend on
multiple factors in addition to an identified genetic change
• What is the relationship of how cells are involved in disease
processes?
❖ All diseases are disturbances at the cellular level (Rudolph
Virchow, 1858) To treat disease, we must understand its cause.
To understand the cause of a disease, we must understand the
alterations that occur at the level of individual cells.
❖ Systemic manifestations of cellular injury include fever,
leukocytosis, increased heart rate, pain, and serum elevations
of enzymes in the plasma.
❖ Manifestations of cellular injury include accumulations of water,
lipids, carbohydrates, glycogen, proteins, pigments,
hemosiderin, bilirubin, calcium, and urate.
,Altered Physiology
• Evaluate cellular processes and alterations within cellular processes
❖ Cellular processes, such as transcription, DNA replication,
and DNA repair, are regulated by an intimate and self-
reinforcing crosstalk and interdependence between histone-
modifying complexes and other histone-modifying activities,
such as acetylation, phosphorylation, and methylation.
❖ Cellular processes are mediated through the complex action of
several biological molecules through biochemical or biophysical
interactions. Comprehensive understanding of the network will
hence help to better understand the molecular mechanism
underlying human diseases. Proteins “A” and “B” serve as hub
proteins (schematic 1). An alteration (mutation) that removes
one of the hub proteins (schematic 2) could lead to a
significantly more severe outcome compared to an alteration
that affects only a single edge (schematic 3), which could
explain how different alteration in the same gene could lead to a
different disease phenotype.
• Analyze alterations in the immune system that result in disease
processes
❖ Autoimmune diseases originate from the coincidence of an
initiating event in a genetically predisposed individual leading to
an autoimmune mechanism that affects specific target tissues
or cells. Central tolerance develops during the embryonic
period. Peripheral tolerance is maintained in secondary
lymphoid organs by regulatory T lymphocytes or antigen-
presenting dendritic cells.
❖ Inappropriate immune responses are misdirected responses
against the host’s own tissues (autoimmunity); directed
responses against beneficial foreign tissues, such as
transfusions or transplants (alloimmunity); exaggerated
responses against environmental antigens (allergy); or
insufficient responses to protect the host (immune deficiency).
❖
• Identify racial/ethnic variables that may impact physiological
functioning
, ❖ lower education levels, socioeconomic status, lack of health
insurance, inadequate housing, and living near environmental
hazards.
• What is the impact of patient characteristics on disorders and
altered physiology?
❖
• What is the association of genes in the development of disease?
❖ The more strongly inherited forms of complex disorders
generally have an earlier age of onset (breast cancer,
Alzheimer’s disease, heart disease)
o These represents subsets of cases in which there is
single-gene inheritance
o Laterality, is a component, the bilateral forms are more
likely to cluster strongly in families (breast cancer, CL/P)
❖ Sex-specific threshold model fits some of the complex disorders
(pyloric stenosis, CL/P, autism, heart disease)
❖ If it fails to fit others (type 1 diabetes)
• What is the process of immunosuppression and the effect it has on
body systems?
❖ Corticosteroids not only intervene at many points of the immune
response, such as preventing lymphocyte recirculation and
generation of antibody-producing and cytotoxic effector cells,
but they also possess a remarkable anti-inflammatory potency.
They inhibit neutrophil adherence to the vascular
endothelium at an inflammatory site and suppress monocytic
functions such as microbicidal activity, monocyte response to
lymphokines, and release of monokines.
❖ An immunocompromised individual may particularly be
vulnerable to opportunistic infections, in addition to
normal infections that could affect anyone.[3] It also
decreases cancer immunosurveillance, in which the immune
system scans the body's cells and kills neoplastic ones.
Concepts of Cardiovascular and Respiratory Disorders
• Common diseases and disorders that impact the Cardiovascular
system
❖ Diseases of the Veins
Cellular Processes and the Genetic Environment
• Describe cellular processes and alterations within cellular processes
❖ The eight specialized cellular functions are movement,
conductivity, metabolic absorption, secretion, excretion,
respiration, reproduction, and communication.
❖ The chief functions of the nucleus are cell division and
control of genetic information.
❖ Importantly, the ER is responsible for protein folding and
sensing cell stress.
❖ Lysosomes are saclike structures that originate from the
Golgi complex and contain digestive enzymes. These
enzymes are responsible for digesting most cellular
substances completely to their basic components, such
as amino acids, fatty acids, and carbohydrates. A newly
understood role of lysosomes is nutrient-dependent signal
transduction. The signaling function cooperates with the
known degradative role to mediate basic cell functions,
such as nutrient sensing, metabolic adaptation, and
quality control of proteins and organelles. 8. Four
pathways of degradation in lysosomes include
endocytosis, phagocytosis, macropinocytosis, and
autophagy.
❖ . Mitochondria are found in great numbers in most cells
and are responsible for cellular respiration and energy
production. The enzymes of the respiratory chain
(electrontransport chain), found in the inner membrane of
the mitochondria, generate most of the cell’s ATP.
❖ The chemical tasks of maintaining essential cellular
functions are referred to as cellular metabolism.
Anabolism is the energy-using process of metabolism,
whereas catabolism is the energy-releasing process. 2.
ATP functions as an energy-transferring molecule. Energy
is stored by molecules of carbohydrate, lipid, and protein,
which, when catabolized, transfer energy to ATP. 3.
Oxidative phosphorylation occurs in the mitochondria and
is the mechanism by which the energy produced from
carbohydrates, fats, and proteins is transferred to ATP.
, ❖
• What is the impact of the genetic environment on disease?
❖ Family members share genes and a common environment;
therefore, resemblance in traits, such as high blood pressure,
reflects both genetic and environmental factors (nature and
nurture, respectively).
❖ A genetic predisposition may interact with an environmental-
lifestyle factor to increase the risk of disease; this is called a
gene-environment interaction.
❖ The complete human genome sequence will facilitate gene
identification, diagnosis, and disease treatment.
❖ An individual’s genotype is the person’s genetic makeup, and
the phenotype reflects the interaction of genotype and
environment.
❖ Environmental factors, such as diet and exposure to certain
chemicals, may cause epigenetic modifications.
❖
• Explain how healthy cell activity contributes to good health and how
its breakdown in cellular behavior and alterations to cells lead to
health issue.
• What are the roles genetics plays in disease processes?
❖ Changes in many genes, each with a small effect, may underlie
susceptibility to many common diseases, including cancer,
obesity, diabetes, heart disease, and mental illness. In people
with a genetic predisposition, the risk of disease can depend on
multiple factors in addition to an identified genetic change
• What is the relationship of how cells are involved in disease
processes?
❖ All diseases are disturbances at the cellular level (Rudolph
Virchow, 1858) To treat disease, we must understand its cause.
To understand the cause of a disease, we must understand the
alterations that occur at the level of individual cells.
❖ Systemic manifestations of cellular injury include fever,
leukocytosis, increased heart rate, pain, and serum elevations
of enzymes in the plasma.
❖ Manifestations of cellular injury include accumulations of water,
lipids, carbohydrates, glycogen, proteins, pigments,
hemosiderin, bilirubin, calcium, and urate.
,Altered Physiology
• Evaluate cellular processes and alterations within cellular processes
❖ Cellular processes, such as transcription, DNA replication,
and DNA repair, are regulated by an intimate and self-
reinforcing crosstalk and interdependence between histone-
modifying complexes and other histone-modifying activities,
such as acetylation, phosphorylation, and methylation.
❖ Cellular processes are mediated through the complex action of
several biological molecules through biochemical or biophysical
interactions. Comprehensive understanding of the network will
hence help to better understand the molecular mechanism
underlying human diseases. Proteins “A” and “B” serve as hub
proteins (schematic 1). An alteration (mutation) that removes
one of the hub proteins (schematic 2) could lead to a
significantly more severe outcome compared to an alteration
that affects only a single edge (schematic 3), which could
explain how different alteration in the same gene could lead to a
different disease phenotype.
• Analyze alterations in the immune system that result in disease
processes
❖ Autoimmune diseases originate from the coincidence of an
initiating event in a genetically predisposed individual leading to
an autoimmune mechanism that affects specific target tissues
or cells. Central tolerance develops during the embryonic
period. Peripheral tolerance is maintained in secondary
lymphoid organs by regulatory T lymphocytes or antigen-
presenting dendritic cells.
❖ Inappropriate immune responses are misdirected responses
against the host’s own tissues (autoimmunity); directed
responses against beneficial foreign tissues, such as
transfusions or transplants (alloimmunity); exaggerated
responses against environmental antigens (allergy); or
insufficient responses to protect the host (immune deficiency).
❖
• Identify racial/ethnic variables that may impact physiological
functioning
, ❖ lower education levels, socioeconomic status, lack of health
insurance, inadequate housing, and living near environmental
hazards.
• What is the impact of patient characteristics on disorders and
altered physiology?
❖
• What is the association of genes in the development of disease?
❖ The more strongly inherited forms of complex disorders
generally have an earlier age of onset (breast cancer,
Alzheimer’s disease, heart disease)
o These represents subsets of cases in which there is
single-gene inheritance
o Laterality, is a component, the bilateral forms are more
likely to cluster strongly in families (breast cancer, CL/P)
❖ Sex-specific threshold model fits some of the complex disorders
(pyloric stenosis, CL/P, autism, heart disease)
❖ If it fails to fit others (type 1 diabetes)
• What is the process of immunosuppression and the effect it has on
body systems?
❖ Corticosteroids not only intervene at many points of the immune
response, such as preventing lymphocyte recirculation and
generation of antibody-producing and cytotoxic effector cells,
but they also possess a remarkable anti-inflammatory potency.
They inhibit neutrophil adherence to the vascular
endothelium at an inflammatory site and suppress monocytic
functions such as microbicidal activity, monocyte response to
lymphokines, and release of monokines.
❖ An immunocompromised individual may particularly be
vulnerable to opportunistic infections, in addition to
normal infections that could affect anyone.[3] It also
decreases cancer immunosurveillance, in which the immune
system scans the body's cells and kills neoplastic ones.
Concepts of Cardiovascular and Respiratory Disorders
• Common diseases and disorders that impact the Cardiovascular
system
❖ Diseases of the Veins
