Glossary of Pathophysiology Quiz 1

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breakdown or disorder of the human body's function
development of disease
etiologic agent (cause) --> manifestation (result, what you see)
study of disease trends in a population
top 3 diseases 1997
heart disease, cancer, stroke
how does RNA leave nuclear membrane?
chromaTIN in loose arrangment
Mitotic Phase
divide nuclear material
prophase, metaphase, anaphase, telophase.
division of cytoplasm
nucleotide components
1 phosphate, 1 sugar, 1 base
anuclear cell
multinucleate cells
placental, skeletal muscle
RNA synthesis happens here
DNA sugar, structure
deoxyribo sugar, double stranded structure
RNA - sugar, structure
ribo sugar, single stranded
DNA coils around these to prevent breakage and compact space
adenine, guanine
cytosine, thymine
complex of RNA and protrein
provides sites for protein synthesis
can be attached to ER or free
endoplasmic reticulum
network of tubular channels
rough ER - has ribosomes
smooth ER - no ribosomes (sarcoplasmic reticulum in muscle) calcium storage, filter, steroid hormones
Golgi complex
flattened vesicles
receives packages proteins from rough ER, modifies, labels, sends to destination
Golgi protein
protein from Golgi can become part of plasma membrane or be released from cell by exocytosis. proteins that stay inside the cell are synthesized on free ribosomes
pinch off of the golgi complex
contain hydrolases (40 diff)
destroy intracellular debris
autodigestion of dead cells
potentially harmful extracellular substances destr.
double membrane
outer mitochondria membrane
lipid synthesis, fatty acid metabolism
inner mitochondria membrane
convolutions --> cristae. on the cristae are the enzymes of the electron transport chain.
Glycolysis - where? yields?
in cytoplasm, yields pyruvate
Kreb's cycle - where? yields?
in the matrix of the mitochondria, CO2, h2o, nadh which all goes to electron transport chain in cristae of the inner mitochondrial membrane
last enzyme in electron transport chain
ATP synthase
cell membrane/ plasma membrane
phospholipid bilayer
phospholipid mostly on inner of the lipid bilayers. has negative charge. flips to outer layer when cell injured to signal macraphages with negative charge.
phospholipid in mitochondrial membrane. those with antibodies against this have lupus.
cell membrane function
selective barrier
decrease in cell size
fewer organelles, less protein
fewer demands on cell

causes: disuse ischemia - dec. blood flow, poor nutrition, decreased hormonal stimulation, denervation

happens in skeletal muscle, brain, uterus
increased cell size
accumulation of protein due to more demands on cell

hypertension --> hypertrophy of heart

kidney donation --> other gets bigger

exercise --> hypertrophy of skeletal muscles

Compensatory hyperplasia
increased # of cells, inc. rate of cell division

organ regeneration, wound healing
hormonal hyperplasia
menses, prostate growth with BPH. increased # of cells, inc. rate of cell division
reversible replacement of one mature cell by another within a basic tissue group.

squamous cells stimulated by smoking to become stratified squamous cells in the bronchi. self defense mechanism.

muscle, epithelium, connective and nervous tissues
abnormal changes in size, shape, organization of cells
(precursor to cancer)

epithelial tissue of cervix and resp. tract



often preceded by metaplasia
lack of sufficient oxygen
most common cause of cellular injury

causes: ischemia (dec. blood flow), artherosclerosis, thrombosis (blood clot)

decreased hemoglobin, decreased oxygen in air, obstr. in respiratory system
complete lack of oxygen
free radicals
electrically uncharged atom or group of atoms having an unpaired electron

chain reaction - unstable bonds in key molecules

stimulus - uv light, xrays, some normal metabolic rxs.
free radicals inactivated by:
vitamin E
vitamin C
superoxide dismutase
glutathione peroxidase
absorbed via intestines or lungs, transplacental
primarily accumulates in bone where red blood cells produced.

can cause: nervous system, encephelopathy (CNS injury), anemia in erythrocytes, acute abdominal pain, kidney (renal) damage
4 more common forms of cell injury (besides chemical agents, free radicals and hypoxia)
nutritional imbalances
physical agents (temp, radiation)
necrosis - what? signs?
irreversible cell death

clumping of chromatin
disruption of plasma membrane and organelle membrane
cell swelling with water due to malfunction of sod/pot pump
coagulative necrosis
kidneys, adrenal glands, heart

usually results from hypoxia

albumin proteins go from gel to denatured (like cooked egg white)
Liquefactive necrosis
brain, softening center of an absess with liquefication

little connective tissue
rich in lipids
rich in digestive enzymes
Caseous necrosis
tissue resembles cottage cheese

debris from dead cells not completely digested

primarily in lungs, mycobacterium tuberculosis
Fat necrosis
breast, pancreas

looks like white chips of soap

triglycerides --> free fatty acids ---> soaps
Gangrenous necrosis
hypoxia followed by bacteria infection

gas gangrene - infecting bacteria is clostridium (can be life threatening)

dry gangrene NOT life threatening
fallen apart

worn out cells, excessive cells, abnormal cells.

can be normal with old cells or as result of injury, imploding of cells such as fetal webbed fingers, best defense against cancer
DNA composed of
phosphoric acid
nitrogenous base
end of interphase
92 chromosomes, before splitting into 2 cells
DNA (gene) and turn it into single stranded mRNA in the nucleus
mRNA leaves nucleus to go to ribosomes by passing through pores in the nuclear envelope.

translated on the ribosome into a protein with transfer RNA

mRNA has 3 codons, tRNA has 3 anticodons. codons and anticodons dock together and drop off the amino acids
errors in replication of DNA

substitution of base pairs - signals for diff. amino acid which changes the protein

loss or addition of a base pair(s), mess up MORE amino acids because a shift is caused on one strand

rearrangement of base pairs
are all mutations inherited
do all mutations lead to adverse consequences
agents that cause birth defects. teratology (study of birth defects)
genetic factors
single gene

multifactorial inheritance

chromosomal "genetic" error in entire chromosome
23 pairs, largest to smallest in order with sex chrom. last.

first 22 pairs autosomes
homologous within the pair
sex chromosomes. if female, "xx", sex. chrom. are homologous
defects here are the usual cause of chromosomal defects.

meiosis - dipload (46) # of cells to start, end up with 4 daughter cells each w/ haploid (23) number of cells
condition in which a cell has a loss or gain of a chromosome
(ie 46 +1, 46 +2, 46 - 1, etc.)
monosomy aneuploidy
cell contains only 1 copy of a given chromosome, if autosome, will never result in a live birth
trisomy aneuploidy
cell contains 3 copies of a given chrom. - most commonly affected # 8, 13, 18, 21 or sex
disorders of autosomes
chromosomal number
structural abnormalities
disorders of sex chromosomes
chromosome number
trisomy 21
most common chromosome # abnormality
47xx+21, 47xy+21

nondisjunction during meiosis - ovum has an extra chrom 21
1 in 800-1000 live births

mental ret., cong. heart dis.
more prone to leuk, alzheimers

genes on chrom. produce proteins. with extra chrom. you are producing extra proteins which upsets homeostasis, feedback mechanisms.
autosome disorder:
exchange of genetic material between non-homologous chromosomes. may or may not lose genetic material.

error maternal OR paternal, age has no affect, runs in families.

5% of down's cases.
usually due to breaks in chrom. that the cell did not repair.

broken ends are sticky, go back together minues the missing gene

ex. cri du chat syndrome
cri du chat syndrome
chromosome 5, missing genes

cause abnormal larynx, makes person cry like a cat, microcephaly, low birth weight, mental retardation
1 in 50,000 live births
eye tumor originating in the retina

deletion in the long arm of chromosome 13

genes lost are those that suppress tumor growth
sex chromosome disorders
compared to the autosomes, numerical abnormalities more common and less lethal
trisomy X
affects 1 in 1000 newborn females

mild mental retardation and sterility

due to nondisjunction
Turner's syndrome
single X chromosome (no homologous X or Y chromosome)

char - short, broad chest, congenital heart disease, underdeveloped ovaries, lack of secondary sex characteristics (no puberty)

1 in 2500 females

result of nondisjunction
Klinefelter syndrome
47 XXY, 48 XXXY (poly X syndrome)

1 in 500-1000 male births

due to nondisjunction of the X

very tall, long limbs, female fat distribution, some degree of breast development
can you survive without an X chromosome?
genetics basics
each gene occupies a position along a chromosome known as a locus.

the genes at a particular locus can exist in different forms, ie alleles (eye color, blood type)
Marfan Syndrome
autosomal dominant disorder - fully expressed in heterozygotes

1 in 10,000 persons
disfunction of gene encoding fibrilin
males or females
poor supporting conn. tissue
decreased life expectancy
tall, spidery fingers, loose joints, weak ligaments, valve malfunction, retinal detachment, etc.
Familial hypercholesterolemia
single gene disorder
1 in 500 americans
mutation in gene encoding the LDL receptor


LDL receptors on hepatocytes (liver cells)
w/ this mutation, liver can't absorb LDL's which leads to high blood cholesterol
autosomal recessive disorders
expressed only under homozygous conditions

both parents must be asymptomatic carriers

25% symptomatic homozygotes
50% asymptomatic carriers
25% do not carry gene at all
cystic fibrosis
most common autosomal recessive disease
1 in 2500 newborns in US homozygous

1 in 25 are carriers
almost exclusively caucasian
gene codes for CF - transmembrane regulator chloride transporter
incurable disease
death at 30-40 yrs, pulmonary infections
req. lung transplant
pathogenesis of CF
clogging of pancreatic ducts.

pancreas makes trypsin, amylase, lipase - if duct clogged, enzymes don't reach small intestine, malabsorption, malnutrition
preventable form of mental ret.

congenital deficiency of phenyalanine hydroxlyase (PAH)

mandatory PKU screening of neonates in US
X-linked recessive disorders
genes are not found on Y chrom.

females carrying gene are usually asymptomatic due to normal homologous X chrom. Males carrying gene WILL express disorder.

affected males do not pass gene to their sons, but will pass to daughter
x-linked recessive

type A - loss of clotting factor 8, 1 in 5000 males, more moderate

type B - loss or def. of clotting factor 9, 1 in 30000 males, more severe
prone to bleeding in joints
duchenne type muscular dystrophy
x-linked recessive
muscle wasting disease begins in utero
1 in 3300 males
gene codes for dystrophin
school age - wheelchair
death by twenties
resp. or cardiac failure due to muscle wasting
Fragile X Syndrome
x-linked recessive

1 in 1000 males (can affect females)

2nd most common cause of hereditary retardation

long face, macroorchidism in prepubertal males, trinucleotide repeate (set of 3 nucleotides that keep repeating, make X chrom. very prone to breaks)
Multifactorial inheritance disorders
product of several genes

anencephaly - imcomplete fusion of the bones, meninges, and skin covering the midline of the head. brain may not be present.

breast cancer
colorectal cancer
diabetes mellitus

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