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
- 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)
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
- 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
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
- disorders of sex chromosomes
- chromosome number
- trisomy 21
- most common chromosome # abnormality
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
MOST COMMON AUTOSOMAL DOMINANT DISORDER!
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
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.
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