BHS 116 - Physiology
Notetaker: Jessica Kulick
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Date: 10/19/2012, 2nd hour
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Pneumonia – infection in the lung
o Bronchopneumonia -> patchy distribution
o Lobar pneumonia -> entire lobe
o Alveoli fill with edema fluid, RBCs, WBCs (neutrophil’s first) and infectious agent
o Decreases respiratory membrane area -> where diffusion occurs to pass O2 from alveoli
to the blood (makes it harder, decrease in ventilation)
o 4 stages in which healthy people can survive
 Congestion (alveoli fill up), red hepatization (RBCs in alveoli, deposit fibrin),
gray hepatization (break down of RBCs, die and release all kinds of things,
becomes fibrous, clot formation), resolution (macrophages break it up, cough up
congestion in the alveoli)
 Most of the time no permanent damage
Genetic Diseases
o Hereditary/familial -> passed down in genes
o Congenital -> present at birth
o Mendelian Disorders
 Autosomal dominant -> one mutant copy to have disease, heterozygous
 Metabolic pathways genes
 KNOW HOW THEY ARE PASSED DOWN
 Marfan Syndrome (fibrillin mutation, component of microfibrils and
connective tissue)
o Skeletal system -> elongates long bones
o Cardiovascular system -> fibrillin is in the connective tissue
portion of large arteries which means aneurysmal dilations can
occur as well as regurgitant valves may be present
 Most serious consequences
o Eyes -> suspensory ligament and causes subluxation or
dislocation of the lens
 Familial hypercholesterolemia
o Can’t get LDL out of the blood
o Premature atherosclerosis
o Increased risk for myocardial infarctions
 Autosomal recessive -> 2 copies of the mutant gene to have the disease
 If only one, asymptomatic carrier
 Enzyme formation genes
 Glycogen storage diseases
o Excessive glycogen in liver/muscle cells
o Focus on liver and skeletal muscle
 Hepatic Form: Liver -> type one pneumocytes, failure to
breakdown glycogen to glucose -> enlargement of the
liver -> hypoglycemia prominent
 Myopathic Form: Skeletal muscle -> can’t produce
enough glucose -> not enough ATP -> fatigue early ->
decreased lactic acid produced
 Cystic Fibrosis -> epithelial cells of exocrine glands affected
o Transport in cells
o Respiratory, GI, and reproductive systems
o Increased NaCl in sweat = major indicator
 Increased NaCl content, more severe cystic fibrosis
 Mutation in cAMP – chloride channel protein
Date: 10/19/2012, 2nd hour
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BHS 116 - Physiology
Notetaker: Jessica Kulick
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100s can occur in one protein
Most common = CFTR gene (missing
phenylalanine)
o Luminal cells of sweat duct -> involved in inward movement of
chloride and sodium so with mutation cannot draw chloride out
affecting epithelial chloride channels
o Respiratory epithelium the channel used for outward movement
of chloride -> opposite effect on the epithelial sodium channel
draws sodium in and water follows the sodium
 Mutated = enhancement of epithelial sodium transporter
-> pulls in more sodium, pulls in more water, dehydrates
mucus, thick and sticky mucus builds up and plugs up
bronchi
o X-linked recessive disorders
 Males if they get it, they have the disease
 Males cannot give to their sons
 All daughters will be carriers
 If a female has it the sons will have a 1 in 2 chance of getting it from mother
 Hemophilia A
 Mutation in factor 8, bleeding disorder, defective coagulation system
 Need to knock out >99% of factor 8 for serious effects
 Fragile X syndrome
 FMR-1 -> trinucleotide repeat mutation (like huntington’s)
 Loss in protein (mRNA transporter)
 Defect in neuronal development
 Causes mental retardation
 Not true mendelian disorder
 Carrier male possible because needs a certain amount of repeats ->
premutation possible
o Daughter in oogenesis can add more and have mutation to pass
on to sons
 Ehlers-Danlos
o Autosomal dominant or autosomal recessive
o Know ocular effects
o And vascular effects
o Normal karyotype
 Normal = 46 chromosomes, 2 sets of 23
 Polyploidy is a whole extra complete set (or 2 complete sets)
 Most not compatible for life
 Aneuploidy = 1 or 2 extra of 1 or 2 chromosomes only
 Error in miosis = nondisjunction, one chromosome fails to seperate
 Down syndrome -> trisomy 21
 Know various mutations
 Point mutations, missense, nonsense, frameshift, trinucleotide repeats,
chromosomal abnormalities (know differences between those)
OLD MATERIAL:
 Simple diffusion, facilitated, primary and secondary active transport
 Nernst equation (single ion) vs. goldman hodgken katz (entire cell -> multiple ions, permeability,
charge, concentration)
 Know which channels/transporters involved in resting potential
BHS 116 - Physiology
Notetaker: Jessica Kulick
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Date: 10/19/2012, 2nd hour
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o Na and K leak channels
o Na/K ATPase
o Anionic proteins
o Most cells more K channels than NA, closer to equilibrium potential of K
Know the parts of the action potential
o Na and K voltage gated channels -> when they are opened and closed
o K = one gate, Na = two gates (activation and inactivation)
o Refractory periods
 Absolute -> no action potential possible
 Relative -> could happen with a stronger stimulus because further away from
threshold
o Know difference between saltatory (node to node, gaps in myelin sheath – node of
ranvier, ion exchange) and contiguous conduction
Neuromuscular junction
o Motor end plate, chemical gated channels – ACh binds, opens channel, primarily
permeable to sodium, no action potentials at motor end plate, end plate potentials no
voltage gated sodium or potassium channels
o Adjacent to motor end plate is where the action potential is generated
Muscle contraction
o Know general mechanism -> A band stays the same
o Thick filament = myosin (head – action occurs here and binds actin as well as the ATP,
and tail)
o Thin filament = actin, tropomyosin, and troponin (I, T, C)
 Tropomyosin lies over binding sites for myosin
o Know cross bridge formation -> myosin – ATP cleaves into ADP and inorganic
phosphate, moves myosin head into a different position, tropomyosin moves via Ca
binding troponin C, pulls tropomyosin out of the way, myosin head can bind to the actin,
myosin releases when new ATP binds
Connect NMJ to ECC (excitation coupling)
Length-tension relationship of sarcomere
o Resting length = optimal tension generation
o Maximum overlap
Motor unit = all individual muscle fibers innervated by a single motor neuron -> different motor
units can have slow or fast twitch but all the same in one motor unit
o Increase contractile strength by having more motor units contracting (multiple fiber
summation) or increases the frequency (more contraction over and over)
 Lots of action potentials back to back will lead to tetanus, maximum contraction
of the muscle
Isometric vs. Isotonic contraction
o Isometric: no length change but the cross bridges still form
o Isotonic: do have shortening -> concentric, or lengthening -> eccentric
Muscle spindle structure
o Maintain optimal length of muscle
o Intrafusal fibers that have non-contractile central portions that have 2 types sensory nerve
endings in the muscle length, reflex back to the spinal cord sends back alpha neuron
fibers (normal) to contract back to normal muscle length
o Unitary: single unit smooth muscle -> majority
 GI, vascular
 Contract as functional syncytium
 Myogenic: contract on their own
BHS 116 - Physiology
Notetaker: Jessica Kulick
 Pacemaker cells regulate rate of contraction
Multi-unit smooth muscle -> discrete contracting on their own, act on their own
 Neurogenic in nature need neuronal stimulation
Major differences between skeletal and smooth muscle
o Skeletal
 Sarcoplasmic reticulum – Ca source
o Smooth
 Extracellular fluid – Ca source
 Physically phosphorylate myosin light chains, releases when dephosphorylates
Neurodegenerative Diseases
o Alzheimer’s -> cerebral cortex
 Senile plaques (neuritic)
 Beta amyloid
 Neurofibrillary tangles
 Hyperphosphorylated tau and microtubules
 Intracellular
o Huntingtons
 Basal ganglia in brainstem
 Inherited mutation in huntingtin protein
o Parkinson disease
 Degeneration of pigmented neurons in substantia nigra (dopamine producing)
 Can’t help with coordination of muscle movement
o CJD – transmissible spongiform encephalopathy
 Mutant prion protein -> know how aggregation forms
 Most cases are normal prion protein then sporadic chance from alpha
helix to beta pleated sheet
 Goes on to mutant another prion protein
 Until large amount that aggregates together
o Multiple sclerosis
 Autoimmune
 Demyelinating, triggered by T Cells
 Symptoms vary based on where plaques form
o Mysthenia gravis
 Antibodies against ACh receptor by B cells
 Ptosis, diplopia, smaller muscles affected first
o Duchenne and Becker muscular dystrophy
 Dystrophin protein
 Duchenne = no mature protein made
 Becker = smaller (truncated) protein formed
Cardiovascular
o Specialized conduction system (SA, AV, Perkinje fibers, Bundle of His, etc)
 Difference between action potential in pacemaker cells and cardiomyocytes
 Pacemaker cells: sodium funny channel, transient calcium channel, once reaches
threshold, opens L type calcium channel causes depolarization (Ca entering cells)
in conducting cells, repolarization is the potassium like in a regular action
potential
 Cardiomyocytes: Depolarization by inward sodium, repolarization by outward
potassium, slow inward calcium flattens the action potential (plateau phase),
repolarization: potassium outward flow normal
Cardiac cycle graph
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BHS 116 - Physiology
Notetaker: Jessica Kulick
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Date: 10/19/2012, 2nd hour
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Ventricular pressure and volume graph
Heart rate
o Normal balance between sympathetic and parasympathetic
Frank-Starling Law
o Increase venous return (end diastolic), stretches ventricle, increases stroke volume
Cardiac output -> heart rate and stroke volume
o Change in either will modify it
o Intrinsic = frank-starling
o Extrinsic = sympathetic innervation
Total peripheral resistance
o Arteriolar radius -> determined by local controls
 O2, CO2, stretch
 Metabolic activity of tissue determine how much blood flows typically by
constricting or dilating arterioles
o Extrinsic -> neuronal/hormonal controls
 Given off by other areas, systemic effects
 Flight/fright response -> sympathetic stimulation
 Major determinant = RBCs, blood viscosity
 More RBCs is more viscous, slower the blood flow
Capillary exchange -> main determinant = capillary hydrostatic and colloid osmotic pressure
o Arteriolar end = greater hydrostatic than colloid osmotic, fluid moves out of capillary
o Venous end = lower hydrostatic, colloid osmotic the same, fluid flows back into the
capillary
o Only lose about 10% of fluid into interstitial fluid -> taken up by lymph
Erythropoiesis -> stimulation of new RBC formation
o Decreased O2 in the blood, stimulate bone marrow production of RBCs
o Sensed by kidney and it releases erythropoietin
Know coagulation cascade and platelet plug formation
o Endothelium scraped away, exposes collagen
o Platelet plug formation happens right away
o As platelets bind, release thromboxin and ADP
o ADP stimulates more platelet aggregation
o Normal endothelium releases NO and endothelin keep platelets from binding where they
aren’t supposed to
Coagulation cascade also triggered by collagen
o Big thing: Activation of factor 10 along with factor 5 and PF3 and Ca
 Converts prothrombin to thrombin
 Thrombin takes over
 Main former of the clot
 Converts fibrinogen into fibrin
 Activated factor 13 -> forms more stable fibrin meshwork on clot
 Contributes to own activation (self-activating)
 Stimulates further platelet aggregation
o Plasmin breaks up the clot
Blood pressure major factors are cardiac output total peripheral resistance which alter mean
arterial pressure
Baroreceptors sense changes in blood pressure -> elevated vs. decreased
o Short term regulation
Cardiovascular pathologies
o Primary/central hypertension
BHS 116 - Physiology
Notetaker: Jessica Kulick
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Date: 10/19/2012, 2nd hour
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Secondary hypertension -> caused by another disease
 Ocular manifestations
 Hypertensive retinopathy
o Cotton wool spots, optic nerve swelling, flame shaped
hemorrhages, copper wiring
 Hypertensive choroidopathy
 Branched retinal vein occlusions
Atherosclerosis
 Early and slow developing
 Formation of plaques = under endothelium -> response to injury -> know the
steps in plaque formation
Ischemic heart disease
 Decreases O2 delivery
 Stable angina -> vessel occluded 70-75%
 Only in exertion
 Unstable angina -> much greater blockage
 Change in plaque -> thrombus forms on top of it
 Heart starved of O2
 Can lead to myocardial infarction
 Subendocardial = 1/3 to ½ of the ventricular wall, less severe
 Transmural = entire thickness
Hypertensive heart disease
 L side = hypertension, left ventricle pumping of greater blood pressure,
hypertrophy of ventricular wall, decreased lumen
 R side = pulmonary, thickness of right ventricular wall, dilation of right ventricle
lumen, right ventricle works to hard, leads to heart failure
 Due to pulmonary emboli increasing pulmonary pressure
 Triggered by emphysema
Valve disorders -> stenosis or regurgitation
 Mostly aortic or mitral valves
Cardiomyopathy
 Dilated: disease of systoly, all chambers dilated, reduced contraction/ejection
 Hypertrophic: diastoly, decreased filling of the left ventricle, decreased amount
in lumen
 Restrictive
Congenital heart diseass
 L to R shunts
 R to L shunts (tetralogy of flow)
 Cyanosis earlier, unoxygenated blood into systemic circulation
 Atrioseptal defect
 Ventricularseptal defect
Sickle Cell anemia -> autosomal recessive
 Point mutations in beta -> HbA to HbS
 When releases O2 to tissue becomes sickled, lengthens, can go back and forth in
shape depending on oxygenated state
 Over time -> irreversibly sickled RBCs, lyse earlier, plug up regions of
vasculature
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