NIGHTINGALE PATHOPHYSIOLOGY UPDATED EXAM
TEST PAPER QUESTIONS AND ANSWERS SURE A+
✔✔What are epigenetics? - ✔✔the study of environmental influences on gene
expression that occur without a DNA change
✔✔What are epigenetic mechanisms? - ✔✔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? -
✔✔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? - ✔✔abnormal cell division
results in an extra full or partial copy of chromosome 21.
✔✔What is Gaucher disease due to? - ✔✔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 ? - ✔✔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? - ✔✔having only one X chromosome (45X)
✔✔What causes Kleinfelter syndrome? - ✔✔There is one extra X chromosome at the
sex chromosome pair.
✔✔What is the Impact of alcohol use during pregnancy? - ✔✔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? -
✔✔Contusion (bruise)
Laceration
Fracture
✔✔What are signs of intentional and unintentional injuries in sharp force injuries? -
✔✔Incised Wound - A wound that is longer than it is deep
Stab Wound - Deeper then it is long
Puncture wound - Instruments or objects with sharp points but without sharp edges
Chopping Wound - Heavy, edged instruments
✔✔What are signs of intentional and unintentional injuries in Gunshot wounds? -
✔✔Entrance Wound
Contact range entrance wound;
A wound when the gun's muzzle presses into skin surface
Intermediate (distance) range entrance wound: Surrounded by gunpowder tattooing or
stippling
Indeterminate range entrance wound:
Occurs when flame, soot, or gunpowder does not reach skin surface but bullet does
Exit Wound
Wounding potential of bullets:
Most damage done by a bullet is a result of amount of energy transferred to tissue
impacted
✔✔What are signs of intentional and unintentional injuries in Asphyxiation? -
✔✔Asphyxial injuries are caused by the failure of cells to receive or use oxygen:
suffocation, strangulation, chemical asphyxiants, drowning.
✔✔Pathophysiology behind alterations in water movement - ✔✔Edema
TEST PAPER QUESTIONS AND ANSWERS SURE A+
✔✔What are epigenetics? - ✔✔the study of environmental influences on gene
expression that occur without a DNA change
✔✔What are epigenetic mechanisms? - ✔✔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? -
✔✔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? - ✔✔abnormal cell division
results in an extra full or partial copy of chromosome 21.
✔✔What is Gaucher disease due to? - ✔✔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 ? - ✔✔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? - ✔✔having only one X chromosome (45X)
✔✔What causes Kleinfelter syndrome? - ✔✔There is one extra X chromosome at the
sex chromosome pair.
✔✔What is the Impact of alcohol use during pregnancy? - ✔✔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? -
✔✔Contusion (bruise)
Laceration
Fracture
✔✔What are signs of intentional and unintentional injuries in sharp force injuries? -
✔✔Incised Wound - A wound that is longer than it is deep
Stab Wound - Deeper then it is long
Puncture wound - Instruments or objects with sharp points but without sharp edges
Chopping Wound - Heavy, edged instruments
✔✔What are signs of intentional and unintentional injuries in Gunshot wounds? -
✔✔Entrance Wound
Contact range entrance wound;
A wound when the gun's muzzle presses into skin surface
Intermediate (distance) range entrance wound: Surrounded by gunpowder tattooing or
stippling
Indeterminate range entrance wound:
Occurs when flame, soot, or gunpowder does not reach skin surface but bullet does
Exit Wound
Wounding potential of bullets:
Most damage done by a bullet is a result of amount of energy transferred to tissue
impacted
✔✔What are signs of intentional and unintentional injuries in Asphyxiation? -
✔✔Asphyxial injuries are caused by the failure of cells to receive or use oxygen:
suffocation, strangulation, chemical asphyxiants, drowning.
✔✔Pathophysiology behind alterations in water movement - ✔✔Edema
