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EKU - NSC 350 - Study Guide - Midterm

Created by: Ashley Moses Elite Notetaker

EKU - NSC 350 - Study Guide - Midterm

School: Eastern Kentucky University
Department: Nursing and Health Science
Course: Pahtophysiology
Professor: Terri (Theresa) Loan
Term: Spring 2019
Tags:
Name: Pathophysiology Exam 1
Description: These are notes and key points for our first exam.
Uploaded: 02/10/2019
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background image NSC 350 Exam 1 Study Guide * Before studying for this exam and using my study guide, 
keep in mind that this is NOT an outline for a test or a 
substitute for your readings or the PowerPoints. I have 
highlighted key information that is important for this exam and
I recommend that you use this as a guide while reviewing your 
PowerPoints. If you are still confused I would be more than 
happy to help (my email is 
ashley_moses9@mymail.eku.edu  ),  your book will have answers in greater detail, and Dr. Loan can
answer any questions you may have. *
Genetic Control of Cell Function and Inheritance Know the difference between genetic, congenital, and 
inherited
o Genetic- mutation in a gene
o Congenital- present at birth; may not show 
immediately, can show later in life o Inherited- passed from parent to offspring Difference between DNA and RNA: DNA provides coding for 
cells, RNA assembles the cell
Gene mutation happens in the DNA o Can be duplicated, rearranged, or deleted DNA mutation in a germ cell leads to an inherited disorder Heterozygous- dominant- one or both parents (chromosome 
pairs)
Homozygous- recessive- must be in both parents (chromosome
pairs)
Difference between genetics and genomics o Genetics is biological
background image o Genomics is biopsychosocial (think of interaction with  environment, cultural influences, 3 rd  world countries) Genes control every function of a cell Multifactorial inheritance disorders are just like they sound, 
environmental effects (physiologic and/or behavioral)
o Think of second hand smoke, polluted water, obesity,  etc. Gene pair= allele Location of gene pair= locus There are 22 autosome pairs and 1 sex pair (23 total) Genotype is the genetic makeup of a gene (think of the coding) Phenotype in the appearance of the gene (tall, short, hair 
color, eye color, etc.)
Expressivity= how obvious gene mutation is (think of how you 
can tell from the human eye that someone has down 
syndrome)
Penetrance= the ability for the gene mutation to express itself Genetic and Congenital Disorders Autosome dominant disorders- gene abnormalities in which 
structural proteins (build tissue and collagen) limit our 
metabolic functions. This leads to growth problems, connective
tissue problems, etc.
o Only the affected person can transmit the disease Marfan’s Syndrome o Inadequate formation of connective tissue
o Low strength and elasticity of connective tissue- High 
Fall Risk 2
background image o Abnormally long arm span (arms longer than total  height) o Tall and lanky, flexible joints, skeletal deformities  (scoliosis), and heart issues- reason for short lifespan 
(30-40 yrs)
Autosome recessive disorders- enzyme problems, usually 
diagnosed early in life. These disorders are typically obvious, 
such as in cystic fibrosis (excessive mucus production).
o Both parents must be a carrier to transmit disease Tay-Sachs disease- blood disease that causes widespread 
neurological deterioration. This disease is caused by 
inadequate lysosome breakdown. This is an inherited condition
and has a short lifespan of about 4 yrs.
Down Syndrome o Most common chromosome disorder, normally found on chromosome 21 o Trisomy is not usually inherited, it is typically a new  gene mutation  o Typically related to advanced maternal age
o Dysmorphic features, congenital heart disease, 
leukemia, respiratory infections, Alzheimer’s/Dementia Sex-linked Chromosome Disorders o Passed through defective X chromosome, this means it  is mostly recessive disorders o Males are most likely to have the active disease, rare  for females Klinefelter’s Syndrome o Not inherited, only in males, has an extra X  chromosome (XXY) o Start noticing manifestations around puberty
o Can be noticed early in childhood if there is a language 
delay 3
background image o Lower body longer than upper body, tall stature
o Typically has some feminine sex characteristics due to 
decrease in testosterone, which also causes sterility  Turner’s Syndrome o Not inherited, only in females, has one normal X but an  abnormality in the other o Small stature, some or all reproductive organs may be  missing Multifactorial inheritance disorders- caused by multiple gene 
abnormalities as well as environmental affects 
(chemicals/drugs, radiation, TORCH)
o Fetus is most susceptible during first 15-60 days of  uterine implantation  Fetal Alcohol Syndrome- damage occurs in corpus callosum o No amount of alcohol is considered safe during  pregnancy  o Clinical manifestation- small head, strabismus (lazy  eye), seizures, hyperactive Cocaine is a vasoconstrictor, which raises your blood pressure, 
which is very harmful to the baby and the mother
Folic Acid Deficiency- causes Spina Bifida (opening in spinal 
cord, spinal cord protrudes through a small opening in the 
back)
o Can cause lifelong paralysis  Cellular Adaption, Injury, and Death Atrophy- decrease in cell size and/or quantity to conserve 
energy. This is adaptable and reversible
Hypertrophy- increase in cell size and/or quantity. This is 
commonly seen in cardiac and skeletal muscle due to an 
4

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School: Eastern Kentucky University
Department: Nursing and Health Science
Course: Pahtophysiology
Professor: Terri (Theresa) Loan
Term: Spring 2019
Tags:
Name: Pathophysiology Exam 1
Description: These are notes and key points for our first exam.
Uploaded: 02/10/2019
20 Pages 218 Views 174 Unlocks
  • Better Grades Guarantee
  • 24/7 Homework help
  • Notes, Study Guides, Flashcards + More!
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