MT 1 Flashcards
dystrophic calcification
deposit of calcium in damaged tissue (atherosclerosis)
ie normal calcium levels
metastatic calcification
deposit of calcium in normal tissue
necrosis
localized death of cells, tissues, or organ
- uncontrolled
- cell membraine breaks down and contents are released
coaglative necrosis
morphalogic appearance of boiled meet
-most common, due to inactivity of hydrolytic enzymes
liquefactive necrosis
dissolution of tissue
- soft and filled with fluid
- eg brain infarct
caseous necrosis
cheese like necrotic tissue
- limited liquifaction
- seen in TB
fat necrosis
fat deposits that are calcified by enzymes
-white chalky areas
apoptosis
cells shrink into small components and are absorbed by other clls
no contents are released
no inflammatory reaction
function of inflammation
- contain and isolate injury
- destroy microorganisms/toxins
- prepare tissue for healing and repair
- coordinated by vascularized living tissue (ie does not happen after death)
clinical signs of acute inflammation
- redness
- pain
- edema
- loss of function
- heat
histamine
inc. vessel permiability
- released by mast cells
basophils
mast cells in tissue
bradykinin
increases vessal permeability
causes pain
compliment
plasma proteins that kill bacteria
-activated by classical, alternative, or lectin pathways
arachidonic acid derivatives
- from phospholipids in cell walls
- metaboized to form inflammatory substances
what do NSAIDS block?
AA derivative formation
presence of fluid in tissue
edema
transudate
protein poor fluid containing few cells
exudate
protein rich fluid
different types
serous inflammation
fewer cells, clear exudate
fibrinous inflammation
sticky, exudate rich in fibrin
purulent inflammation
pus
rich in neutraphils (due to bacterial infection)
ulcerative inflammation
loss of epithelial lining
inflammaiton extens to surrounding tissue
pseudomembranous inflammation
ulceration and fibrinopurulent exidate
-forms pseudomembrane over the ulcer
herniation
abscess in brain inc. volume in cranium–>brain moves down into foremen magnum
-medulla is compressed
outcomes of inflammation
- complete resolution
- abscess formation-lined in fibrous capsule
- healing by fibrosis and scar formation-normal tissue replaced
- progression to chronic inflammation
chronic inflammation
exudate rich in mononuclear cells (lymphocytes, plasma cells, macrophages present)
examples of regeneration abilities
epithelial cells-high
liver cells-can divide but slower
neurons-can’t
wound healing by first intention
occurs after surgical incision
- scab formation, nutraphils enter and scavenge debris
- formation of granulation tissue
- resorbtion of granulation tissue and replacement by fibrous scar
wound healing by second intention
- gaping wound not closed surgically
- granulation tissue forms and is replaced w/fibrous tissue
- wound contracts with time
keloid
scar that expands beyond site of wound
teratogen
agent that causes fetal abnormality
developmental malformation
results in abnormal features
- 75% of the time the cause is unknown
- can be genetic
achondroplastic dwarfism mode of inheritance
autosomal dominant
examples of teratogens
x rays alcohol thalidomide isotretinoin infectious things: TORCH toxoplasmosis (parasites), other (bacterias) (STD, unpasturized milk), Rubella, cytomegaalovirus herpes simplex
fetal alcohol syndrome
- intra-uterine growth retardation
- reduced mental processes
- altered physical appearance
monosomy
loss of chromosome
-autosomal monosomies are fatal
-Y is fatal
X is not- turner’s syndrome
trisomy
presence of extra copy of a chromosome
not necessarily fatal
-sex are usually not lethal
downs syndrom
1 in 800 neonates affected
- complete copy in most cases (more severe phenotype)
- translocation sometimes
- usually the mother’s chromosome, risk is inc. with inc. age
- screen older mothers
- significant morbidity and increased mortality
- intestinal atresia, heart defects, etc.
turner’s syndrome
monosomy X
1 in 3000 neonates
abnormal segregation of X or Y during meiosis
-female but infertile
-ovaries present but unable to produce eggs
klinefelter’s syndrome
trisomy X 1 in 700 neonates -abnormal X or Y segregation -male phenotype (XXY) -infertile-atrophic testis
XXX
still compatible with life
-slowed mental processes
q 13 deletion
q means long arm
known to cause retinoplastonas
alleles
genes present on autosomes
- 1 copy form each parent
- one copy of Y genes for males
marfans pattern of inheritence
autosomal dominant
familial hypercholesterolemia pattern of inheritence
autosomal dominant
what is variable penetrance?
variable expressivity?
the percentage of intividuals with a gene that will actually express it
-degree of expression in the individual with the gene
marfan’s syndrome
defect in fibrillin gene -tall, thin, loose joints -cardiovascular abnormalities -occular abnormalities -shortened life expentancy (usually due to rupture of a dissecting aneurysm)
dissection
blood tracking through vessel vall
familial hypercholesterolemia
defect in LDL receptor gene
-insufficient removal
-deposits in tissue as atheroslerosis and xanthomas in skin and soft tissue
worse phenotype if homozygous
-develop ischemic heart disease before age 20
cystic fibrosis mode of inheritence
autosomal recessive
-carrier rate 1 in 25
cystic fibrosis
defect in Cl transport gene -->thick exocrine secretions that obstruct ducts and cause infections meconium ileus (failure to pass meconium) -pseudomonas nifections
lysosomal storage diseases
- group of diseases of defects in different enzymes
- results in accumulation of materials in lysosomes
- eg lipidoses, glycogenoses
tay sachs
autosomal recessive lysosomal storage disease -defective hexosaminidase -brain, eye changes -3-5 yr life expectancy
gaucher disease
lysosomal storage disease
defective glucocerebrosidase
-enlarged spleen, anemia
-normal life expectancy if type 1
phenylketonuria
defective phenylalanine hydroxylase gene
- which converts it to Tyr
- accumulation causes toxic effects on cells during development (not adulthood)
- can minimize effects by following phenylalanine deficient diet
hemophilia
x-linked recessive-only males are effected
defect in coagulation proteins (clotting factors)
-secondary complications are arthritis, joint malformation
-treatment=factor replacement
duchenne and backer’s muscular distrophy
due to defective dystrophin protein
- which is involved in attachment of cytoskeleton, especially muscles
- duchenne more severe, earlier onset of muscle wasting
fragile x syndrome
affects males (but not classical inheritence pattern)
- portion of X chromosome is fragile due to CGG triplet repeats
- these increase with each generation and mental retardation and enlarged testis are eventually expressed
2 examples of multifactorial inheritence disorders
dysraphia
diabetes type 2
5-10% chance of developing disorder b/c of exogenous and endogenous factors contributing to expresion
egs of dysraphias
=neural tube defects anencephaly-abscence of brain spina bifida-defect in vertebral bones (dont fuse properly) meningocele-defect in vertebre/meninges folate decreases risk
chorionic villus sampling
- biopsy of placental villus
- gets fetal cells for analysis
- risky
premature baby
delivered b/f 37 wks
Intrauterine growth restricted baby
is less than 3200g