Pathophysiology Midterm Nightingale 2
What is Pathophysiology? - ANSWERS-the biologic basis for disease in adults and
children
What is Diagnosis? - ANSWERS-naming or identification of a disease
What is etiology? - ANSWERS-study of the cause of disease
What are the cell organelles ? - ANSWERS-Plasma Membrane
Nucleus
Mitochondria
Smooth Endoplasmic Reticulum (SER)
Rough Endoplasmic Reticulum (RER)
Golgi apparatus
Peroxisome
Lysosome
What does the nucleus do? - ANSWERS-Control center of the cell and contains DNA
What does the plasma membrane do? - ANSWERS-Controls what enters and leaves
the cell
What does the mitochondria do? - ANSWERS-This is where most of the reactions for
respiration take place. Respiration releases energy that the cell needs to work.
Powerhouse of the cell
What does the smooth ER do? - ANSWERS-synthesizes lipids
What does the rough ER do? - ANSWERS-protein synthesis
What does the Golgi apparatus do? - ANSWERS-processes, warehouses and ships
(outside and inside cell) ER products
What does the peroxisome do? - ANSWERS-break down of toxic molecules
What does a lysosome do? - ANSWERS-Removes the junk in the cell.
What is autocrine signaling? - ANSWERS-Occurs when a cell releases a signal and
expresses a receptor for that signal at the same time.
What is contact dependent signaling ? - ANSWERS-molecules bound to the surface of
cells serve as signals to cells coming in contact with them
What is paracrine signaling? - ANSWERS-When the hormone released from a cell acts
on a neighboring cell
What is Hormonal signaling? - ANSWERS-long-range signal through the blood to any
cell w/ available receptors
What is a transduction pathway? - ANSWERS-series of relay proteins that ends when a
protein is activated
What is DNA? - ANSWERS-deoxyribonucleic acid, a self-replicating material present in
nearly all living organisms as the main constituent of chromosomes. It is the carrier of
genetic information.
What is the DNA structure? - ANSWERS-Double helix; two strands of nucleotides
running anti-parallel to one another
What are mutations? - ANSWERS-heritable changes in genetic information
What is a genotype? - ANSWERS-genetic makeup of an organism
What is a phenotype? - ANSWERS-expression of the genes
, all the observable characteristics of an organism that result from the interaction of its
genotype (total genetic inheritance) with the environment.
What are alleles? - ANSWERS-different forms of the same gene
What are genes? - ANSWERS-Genes are sections of DNA that control a single genetic
trait.
What is heterozygous? - ANSWERS-Organisms have two different alleles for a
particular trait.
What is homozygous? - ANSWERS-organisms that have two identical alleles for a
particular trait
What is a dominant allele? - ANSWERS-an allele that always expresses itself when
present
What is a recessive allele? - ANSWERS-an allele that only sometimes expresses itself
What are epigenetics? - ANSWERS-the study of environmental influences on gene
expression that occur without a DNA change
What are epigenetic mechanisms? - ANSWERS-Changes in gene activity resulting from
a variety of environmental factors such as toxins, diet, stress, etc.
What are the genetic mechanisms that lead to spinal muscular atrophy? - ANSWERS-
deletion or mutation in the SMN1 gene, which encodes a protein known as survival
motor neuron (SMN). This protein plays an important role in the functioning and
maintenance of motor neurons.
It is an inherited autosomal recessive degenerative disease of the anterior horn cells of
the spinal cord.
What is the genetic mechanism behind Down syndrome? - ANSWERS-abnormal cell
division results in an extra full or partial copy of chromosome 21.
What is Gaucher disease due to? - ANSWERS-glucocerebrosidase deficiency
caused by changes (mutations) in a single gene called GBA. Mutations in the GBA gene
cause very low levels of glucocerebrosidase
What is the genetic mechanism of Zellweger Disease ? - ANSWERS-a mutation in any
of the 12 PEX genes. Most cases of ZS are due to a mutation in the PEX1 gene.
What causes Turner Syndrome? - ANSWERS-having only one X chromosome (45X)
What causes Kleinfelter syndrome? - ANSWERS-There is one extra X chromosome at
the sex chromosome pair.
What is the Impact of alcohol use during pregnancy? - ANSWERS-Alcohol ingestion
during pregnancy is associated with cognitive deficiencies and neurobehavioral
disorders, including fetal alcohol syndrome (FAS) . Fetal alcohol spectrum disorders
(FASDs) are a range of health effects or disorders of prenatal alcohol exposure with
FAS at the more severe end of the spectrum. FAS syndrome is characterized by growth
retardation, facial anomalies, cognitive impairment, and ocular malformations (Fig.
4.18).
What are signs of intentional and unintentional injuries in blunt force injuries? -
ANSWERS-Contusion (bruise)
Laceration
Fracture
What are signs of intentional and unintentional injuries in sharp force injuries? -
ANSWERS-Incised Wound - A wound that is longer than it is deep
Stab Wound - Deeper then it is long
What is Pathophysiology? - ANSWERS-the biologic basis for disease in adults and
children
What is Diagnosis? - ANSWERS-naming or identification of a disease
What is etiology? - ANSWERS-study of the cause of disease
What are the cell organelles ? - ANSWERS-Plasma Membrane
Nucleus
Mitochondria
Smooth Endoplasmic Reticulum (SER)
Rough Endoplasmic Reticulum (RER)
Golgi apparatus
Peroxisome
Lysosome
What does the nucleus do? - ANSWERS-Control center of the cell and contains DNA
What does the plasma membrane do? - ANSWERS-Controls what enters and leaves
the cell
What does the mitochondria do? - ANSWERS-This is where most of the reactions for
respiration take place. Respiration releases energy that the cell needs to work.
Powerhouse of the cell
What does the smooth ER do? - ANSWERS-synthesizes lipids
What does the rough ER do? - ANSWERS-protein synthesis
What does the Golgi apparatus do? - ANSWERS-processes, warehouses and ships
(outside and inside cell) ER products
What does the peroxisome do? - ANSWERS-break down of toxic molecules
What does a lysosome do? - ANSWERS-Removes the junk in the cell.
What is autocrine signaling? - ANSWERS-Occurs when a cell releases a signal and
expresses a receptor for that signal at the same time.
What is contact dependent signaling ? - ANSWERS-molecules bound to the surface of
cells serve as signals to cells coming in contact with them
What is paracrine signaling? - ANSWERS-When the hormone released from a cell acts
on a neighboring cell
What is Hormonal signaling? - ANSWERS-long-range signal through the blood to any
cell w/ available receptors
What is a transduction pathway? - ANSWERS-series of relay proteins that ends when a
protein is activated
What is DNA? - ANSWERS-deoxyribonucleic acid, a self-replicating material present in
nearly all living organisms as the main constituent of chromosomes. It is the carrier of
genetic information.
What is the DNA structure? - ANSWERS-Double helix; two strands of nucleotides
running anti-parallel to one another
What are mutations? - ANSWERS-heritable changes in genetic information
What is a genotype? - ANSWERS-genetic makeup of an organism
What is a phenotype? - ANSWERS-expression of the genes
, all the observable characteristics of an organism that result from the interaction of its
genotype (total genetic inheritance) with the environment.
What are alleles? - ANSWERS-different forms of the same gene
What are genes? - ANSWERS-Genes are sections of DNA that control a single genetic
trait.
What is heterozygous? - ANSWERS-Organisms have two different alleles for a
particular trait.
What is homozygous? - ANSWERS-organisms that have two identical alleles for a
particular trait
What is a dominant allele? - ANSWERS-an allele that always expresses itself when
present
What is a recessive allele? - ANSWERS-an allele that only sometimes expresses itself
What are epigenetics? - ANSWERS-the study of environmental influences on gene
expression that occur without a DNA change
What are epigenetic mechanisms? - ANSWERS-Changes in gene activity resulting from
a variety of environmental factors such as toxins, diet, stress, etc.
What are the genetic mechanisms that lead to spinal muscular atrophy? - ANSWERS-
deletion or mutation in the SMN1 gene, which encodes a protein known as survival
motor neuron (SMN). This protein plays an important role in the functioning and
maintenance of motor neurons.
It is an inherited autosomal recessive degenerative disease of the anterior horn cells of
the spinal cord.
What is the genetic mechanism behind Down syndrome? - ANSWERS-abnormal cell
division results in an extra full or partial copy of chromosome 21.
What is Gaucher disease due to? - ANSWERS-glucocerebrosidase deficiency
caused by changes (mutations) in a single gene called GBA. Mutations in the GBA gene
cause very low levels of glucocerebrosidase
What is the genetic mechanism of Zellweger Disease ? - ANSWERS-a mutation in any
of the 12 PEX genes. Most cases of ZS are due to a mutation in the PEX1 gene.
What causes Turner Syndrome? - ANSWERS-having only one X chromosome (45X)
What causes Kleinfelter syndrome? - ANSWERS-There is one extra X chromosome at
the sex chromosome pair.
What is the Impact of alcohol use during pregnancy? - ANSWERS-Alcohol ingestion
during pregnancy is associated with cognitive deficiencies and neurobehavioral
disorders, including fetal alcohol syndrome (FAS) . Fetal alcohol spectrum disorders
(FASDs) are a range of health effects or disorders of prenatal alcohol exposure with
FAS at the more severe end of the spectrum. FAS syndrome is characterized by growth
retardation, facial anomalies, cognitive impairment, and ocular malformations (Fig.
4.18).
What are signs of intentional and unintentional injuries in blunt force injuries? -
ANSWERS-Contusion (bruise)
Laceration
Fracture
What are signs of intentional and unintentional injuries in sharp force injuries? -
ANSWERS-Incised Wound - A wound that is longer than it is deep
Stab Wound - Deeper then it is long
