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Ch. 1, 2, 21
Intro to Patho, Acid Base Imbalances, Genetic Disorders
Question | Answer |
---|---|
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 |