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EKU - NSC 350 - Class Notes - Week 2

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EKU - NSC 350 - Class Notes - Week 2

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background image 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
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 
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)
background image o Start noticing manifestations around puberty o Can be noticed early in childhood if there is a language delay 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 
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  2
background image Cellular Adaption, Injury, and Death Cell morphology refers to a change in cell size and shape Atrophy- decrease in cell size and/or quantity in order 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 increase in workload. The goal is
to increase local function. Can be useful or damaging when this happens 
Hyperplasia- quantity of cells increase. This is usually a normal process, 
like when used for wound healing or menstruation. This only occurs in 
cells that undergo mitosis (epithelial cells)
Metaplasia- one adult cell is replaced by another type of cell. This is 
usually due to chronic inflammation and it is reversible
Dysplasia- cells mutate into a new type of cell, this is precancerous Apoptosis- cell suicide message o All cells are programmed with a lifespan  Physical agents that damage cells: o Impact injury, fractured bones, injured blood vessels o Extremely cold or hot temperatures
o Electrical injuries
Chemical forces: o Drugs, alcohol, metals (mercury in tuna) Radiation forces: o Ionizing (used in the medical field, e.g. x-rays) o Non-ionizing (microwave, ultrasound)
o Ultraviolet (sunburn)
Sunburn at an early age can cause melanoma later in life There is no evidence that sunscreen prevents skin cancer Biologic injury o Viruses and bacteria
o Exotoxins- proteins produced during growth of bacteria, 
interferes with enzyme function, causes death

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School: Eastern Kentucky University
Department: Nursing and Health Science
Course: Pahtophysiology
Professor: Terri (Theresa) Loan
Term: Spring 2019
Name: NSC 350 Week 2 Notes
Description: All of the content from week 2, ending where we did on the last powerpoint. Week 3 will have the remainder of the inflammation content.
Uploaded: 01/28/2019
7 Pages 109 Views 87 Unlocks
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