pathophysiology week 1

why do cells adapt to changes

to maintain homeostasis

cell adapt by changing in… (3 things)

size, number, and form

"plasia" means…

number

"meta" means

change

what does cellular adaptation allow for

the stressed tissue to survive or maintain function

atrophy

decreased cell size

hypertrophy

increased cell size

hyperplasia

increased number of cells

metaplasia

conversion of one cell type to another

dysplasia

disorderly growth

a woman broke her left leg and had a cast on for 3 weeks. what kind of cell adaptation causes her left leg to be smaller?

atrophy

a woman broke her left leg and had a cast on for 3 weeks. what kind of cell adaptation causes her right calf circumference to increase?

hypertrophy

a woman broke her left leg and had a cast on for 3 weeks. what kind of cell adaptation causes callouses on her right leg?

hyperplasia

a woman broke her left leg and had a cast on for 3 weeks. what kind of cell adaptation causes nodules of skin tissue forming a fluid-filled cyst near the incision?

dysplasia

what are the 5 causes of cell injury

physical, radiation, chemical, biological, and nutritional

what are the 3 types of physical cell injury

mechanical forces, extreme temps, and electricity

what are the 3 types of radiation cell injury

ionizing, ultraviolet, and nonionizing

what does ionizing and ultraviolet radiation injure

DNA

give examples of biologic agents that can harm cells

virus, parasites, and bacteria

what is hypoxia

low oxygen

what does hypoxia do

deprives cell of oxygen and interrupts oxidative metabolism and the generation of ATP

5 causes of hypoxia

1. not enough oxygen in the air
2. respiratory disease
3. inability of the cells to use oxygen
4. edema
5. ischemia

2. respiratory disease

3. inability of the cells to use oxygen

4. edema

5. ischemia

what is an edema

swelling because of fluid in the interstitial space that pushes on tissues and inhibits oxygen

what does ischemia mean

without oxygen

apoptosis eliminates cells that…

are worn out, have been made in excess, have developed wrong, and have genetic damage

how does apoptosis differ from necrosis

apoptosis is a normal and protective function and does not stimulate the inflammatory response

what is necrosis

cell death in an organ or tissues that are still part of a living person

what is a problem with necrosis

is often interferes with cell replacement and tissue regeneration

what occurs when a considerable mass of tissue undergoes necrosis

gangrene

how does necrosis differ from apoptosis

necrosis causes inflammation

characteristic of dry gangrene

tissue becomes dry and shrinks, the skin wrinkles, and its color changes to dark brown or black

speed of the spread of dry gangrene

slow

what can cause dry gangrene

lack of blood flow

characteristics of wet gangrene

the affected area is cold, swollen, and pulseless. the skin is moist, black, and under tension. blebs form on the surface, liquefaction occurs, and a foul odor is caused by bacteria

characteristics of wet gangrene spread

rapid and death of the individual can result quickly if not treated

difference between the causes of dry and wet gangrene

dry gangrene is caused by a lack of blood flow. wet gangrene still has blood flow, but bacteria is destroying tissues.

what are congenital defects

defects present at birth that may show up later in life

what are the 3 causes of birth defects

genes, environment, and intrauterine factos

what are the 2 genetic factors that cause cause birth defects

single gene or multifactorial issues

what are the 3 environmental factors that can cause birth defects

maternal disease, infections, or drugs taken during pregnancy

what are some intrauterine factors that can cause birth defects

fetal crowding, positions, or entanglement of fetal parts with the amnion

what is a genotype

the genetic makeup of a person

what is a phenotype

the physical expression of genes

what is a dominant allele

it only takes one gene to cause expression

what is a recessive allele

it takes 2 of the same gene, one from each parent, to cause expression

what is an autosome

any chromosome that is not a sex chromosome

where are genes found

on chromosomes

what is it called when there is a defect on an x or y chromosome

sex-linked

what is it called when there is a defect on other chromosomes (not x or y)

autosomal defect

is XX a man or a woman

woman

is XY a man or a woman

man

what are single-gene disorders caused by

a single defective or mutant gene

which genetic disorder follow patterns of inheritance

single gene

how are single gene disorders obtained

family genetic history

what is an autosomal dominant disorder

only one copy has to be defective to express it

what are the 2 autosomal dominant disorders provided

marfan syndrome and neurofibromatosis

what is marfan syndrome

connective tissue disorder that affects ocular, cardiovascular, and skeletal systems

what are the signs of marfan syndrome

bad vision, aortic tearing, mitral valve prolapse, arachnodactyly, kyphoscoliosis, long thin body, and hyperextensible joints

what is the life expectancy of someone with marfan syndrome

30-40 years

what is the usual cause of death of someone with marfan syndrome

ruptured aorta

what is neurofibromatosis

condition involving neurogenic tumors that arise from Schwann cells and other elements of the peripheral nervous system

what are the signs of neurofibromatosis

soft, pedunculated lesions called neurofibromas; pigmented lesions of skin and iris of eyes

what are the 2 autosomal recessive disorders provided

phenylketonuria and fragile x syndrome

what is phenylketonuria

rare metabolic disorder caused by a deficiency of the liver enzyme phenylalanine hydroxylase

what are the signs of phenylketonuria (PKU)

intellectual disability, microcephaly, delayed speech, and neuro impairment

what is the treatment for phenylketonuria (PKU)

routine screening at birth and lifelong low phenylalanine diet

what happens during phenylketonuria

phenylalanine hydroxylase usually converts phenylalanine to tyrosine. a deficiency in this enzyme causes phenylalanine to build up, which is toxic

what is fragile x syndrome

fragile site on the x chromosome where the chromatin fails to condense during mitosis

simple definition of fragile x syndrome

x chromosome fails to solidify when being reproduced

who does fragile x syndrome affect more

males because they don't have another x to pick up the extra workload

what are the signs of fragile x syndrome

long face, large mandible, large everted ears, large testes (macroorchidism), hyperextensible joints, color blindness, intellectual disability

what is the second common cause of intellectual disability after down syndrome

fragile x syndrome

what is the treatment for fragile x syndrome

supportive

what are multifactorial inheritance disorders caused by

multiple defective genes and environmental factors

cleft lip, clubfoot, congenital dislocation of hip, congenital heart disease, pyloric stenosis, and urinary tract malformation are all examples of …

multifactorial inheritance disorders

what is the most common birth defect

cleft lip

what causes cleft lip

drug exposure while pregnant or maternal rubella exposue

what are teratogens

any factor that increases the risk of abnormal fetal development

what are 3 results of chromosomal disorders

early gestational loss, congenital malformations, and intellectual disability

what are the 3 types of chromosomal disorders

alterations in duplication, number, or structure

what is the name for down syndrome

trisomy 21

what happens with the chromosomes of down syndrome

the mom gives 2 X chromosomes instead of one. the child has three chromosome 21s

what is the biggest risk that causes down syndrome

old eggs

people with down syndrome have an increased risk of _

alzheimer's

mental retardation, low set ears, epicanthal folds, flat facial profile, protruding tongue, abundant neck skin, simian crease, congenital heart defects, intestinal stenosis, umbilical hernia, predisposition to leukemia, hypotonia, and a gap between the first and second toe are all signs of __

down syndrome

what is turner syndrome also called

monosomy X

what happens with the chromosomes of turner syndrome

absence of all or part of the X chromosome

what are the signs of turner syndrome

no secondary sex characteristics

what is the treatment for turner syndrome

estrogen and growth hormone

why does turner syndrome only occur in women

because men have the Y chromosome

short stature, low hairline, constriction of aorta, widely spaced nipples, poor breast development, elbow deformity, rudimentary ovaries, small fingernails, no menstruation, and brown spots are all signs of

turner syndrome

what is Klinefelter syndrome also called

polysomy X

what happens with the chromosomes of Klinefelter syndrome

there are one or more extra X chromosomes

what happens during Klinefelter syndrome

abnormal feminization of males and infertility if no testosterone is administered

absent frontal baldness, poor beard growth, tendency to grow fewer chest hairs, narrow shoulders, breast development, wide hips, female type pubic hair, small testicular size, and long legs are all signs of _

Klinefelter syndrome

what is the treatment for Klinefelter syndrome

testosterone administration during puberty