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Ch. 1, 2, 21

Intro to Patho, Acid Base Imbalances, Genetic Disorders

QuestionAnswer
idiopathic disease unknown
prodromal period early development of disease. signs absent
etiology what factors causes disease
iatrogenic error/ treatment/ procedure caused disease
sequelae potential unwanted outcomes
atrophy decrease in SIZE of cells, reduced tissue mass
hypertrophy increase in SIZE of cells, increased tissue mass
hyperplasia increase in NUMBER of cells, enlarged tissue mass
this cellular adaption occurs when there are increased demands, consistent exercise and excessive hormonal stimulation hypertrophy
this cell adaption occurs with aging, decrease use of tissue, insufficient nutrition and decreased neuro or hormonal stimulation atrophy
this cell adaption can be a compensatory mechanism to meet increased demands or hormonal imbalance hyperplasia
metaplasia normal cell is replaced with more resistant cell
dysplasia cells vary in size and shape within a tissue , rate of mitosis increase
new growth, commonly called a tumor neoplasia
ischemia lack of blood supply
hypoxia reduced o2 in tissues
___ results in lysis causing nearby inflammation pyroptosis
what can cause cell damage? physical damage (excessive heat/cold) mechanical damage chemical toxins (endo/exogenous) microorganisms abnormal metabolites electrolyte imbalances
2 stages of cell damage 1. initial damage 2. inflammation/cell death
what determines if cell can recover from damage? if causative factor is removed
necrosis dying cells cause further cell damage
dead cells liquefy bc of release of cell enzymes. this is called ___ liquefaction necrosis
we see liquefaction necrosis in this tissue. brain
we see this type of necrosis w. MI, proteins are altered/denatured coagulative necrosis
caseous necrosis form of coagulation necrosis thick, cheesy, yellow substance forms
fat necrosis fatty tissue broken down into fatty acids
infarction area of dead cells resulting from O2 deprivation
gangrene area of necrotic tissue, invaded by bacteria
___ are used to diagnose genetic disorders karyotypes
where is genetic info stored? chromosomes
actual genetic info, aka genetic code is known as the ___- genotype
phenotype genotype expressed
disorders present at birth are known as congenital disorders
genetic disorders may result from : single gene trait chromosomal defect multifactorial disorders
a chromosomal defect results from error during meiosis, DNA fragments are displaced or lost
what is a single gene disorder caused by? change in ONE gene within reproductive cells
agents that cause damage during embryonic or fetal development teratogenic agents
this disorder may be caused by multiple genes (polygenic) or inherited. a large # of disorders are this type. multifactorial
how are single gene disorders classified? by inheritance patterns: - recessive - dominant - X linked recessive
a single gene controls a specific function but may have ___ effects
color blindness is an example of what kind of disorder single gene
fragile X is classified as what kind of disorder X-linked dominant disorder
autosomal recessive disorder examples: - cystic fibrosis - PKU - sickle cell - TaySachs
color blindness, Duchenne muscular dystrophy, and hemophilia A are all known as ___ disorders X linked recessive
is heterozygous or homozygous affected in genetic disorder? homozygous
how are genetic disorders tested diagnostically? blood tests in pregnant women utero testing neonatal testing
what are the 3 chromosomal disorders? - down syndrome -turner syndrome - klineflter syndrome XXY
down syndrome (trisomy 21) occurs when there is an extra chromosome. 3 chromosomes on #21
turner syndrome affect's mainly ___ and occurs when girls there's only 1 x chromosome
this genetic disorder causes females to not have ovaries, short stature and infertility turner syndrome
Klinefelter XXY syndrome is seen in ___ and is caused by boys extra X Chromsoome
extra X chromosomes, infertility, small testes and no sperm. this is known as Klinefelter XXY syndrome
which 2 chromosomal orders has an extra chromosome? trisomy 21, and Klinefelter XXY syndrome
multifactorial disorders are disorders that are caused by genetic influences AND environmental factors
examples of multifactorial disorders are - cleft palate - congenital heart disease -congenital hip dislocation -type II diabetes
this type of genetic disorder may present few if any signs single gene disorders
in recessive genes, how many parents need to present allele for child to have disorder? both
only 1 parent needs to have allele for child to have disorder in this genetic disorder. dominant
single gene recessive disorders PKU cystic fibrosis sickle cell tay sachs
this disorder affects exocrine glands, lungs and pancreas cystic fibrosis
this disorder results from missing enzyme that helps break down fatty substances tay sachs
children with PKU cannot have PKU in their diet. true or false. true. their body cannot break down this enzyme
dominant single gene disorders -polycystic kidney disease -Huntington's disease -marfan syndrome -familial high cholesterol
this syndrome affects connective tissue marfan syndrome
Huntington's disease causes progressive breakdown of nerve cells in brain
X linked disorders affect ___ more boys - they don't have backup X chromosome
X linked dominant disorder: fragile X - main cause of mental retardation
X linked recessive disorder examples -Duchenne muscular dystrophy - classic hemophilia -color blindness
what happens to our cells if we don't have adequate water? cell death
edema excess fluid in interstitial
when fluid is not in the area of circulation or cells ___ occurs swelling
causes of edema too much fluid in plasma loss of plasma proteins increased capillary hydrostatic pressure
effects of edema pain functional impairment impaired arterial circulation
why is dehydration more serious in infants and older adults? not a lot of fluid reserve lack ability to conserve fluid quickly
in dehydration, water shifts from where TO where? ECF --> plasma
when we get dehydrated we borrow water from the ECF first and then ___ if too dehydrated cells
edema BP and pulse BP-high pulse-slow
dehydration pulse & BP pulse - rapid, weak BP- low
what happens to sodium levels in edema decrease - so much water
in dehydration what happens to electrolyte levels increase
how does our body attempts to compensate fluid loss? increased thirst increase HR constrict vessels produces less urine
why does urine output decrease in dehydration? body trying to conserve as much fluid as possible
normal sodium range 135-145 mEq/L
potassium normal range 3.8-5 mEq/L
calcium normal range 4-5 mEq/L
normal magnesium range 0.7-1 mmol/L
normal phosphate range 0.85-1.45 mmol/L
normal chloride range 98-106 mmol/L
normal pH range 7/35-7.45
which 2 electrolytes have a reciprocal relationship? ex: when one electrolyte is high the other is low calcium and phosphate
ABGs composed of 4 components pH paCO2 HCO3 PaO2
PaO2 level 80-100
HCO3 is controlled by ___ the kidneys
PaCO2, controlled by the lungs and has a range of 35-45
HCO3 has a normal range of 22-26
the more HCO3 in the blood the more ___ it is basic
more CO2 in the blood, the more ___ it is acidic
what happens in respiratory acidosis increase in CO2
what happens in metabolic acidosis defcrease in HCO3
what happens in respiratory alkalosis decrease in CO2
what happens in metabolic alkalosis loss of H+
pneumonia and COPD are examples of respiratory acidosis
hyperventilation happens in ____ respiratory alkalosis - CO2 is low, pH is high
___ happens as a result of metabolic acidosis diarrhea (excessive loss of HCO3) renal failure
what are some effects of metabolic alkalosis? hypokalemia excessive ingestion loss of HCL
acidosis decrease in PH, excess H+ ions
alkalosis increase in PH, deficient H+ ions
compensation happens when both CO2 and HCO3 are outta range
when we have a respiratory issue, ____ will compensate metabolic - and vice versa - change in respiration - change in renal function
which electrolyte is directly proportional with BP? sodium
Created by: Mariahj25
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