Difference between the glomerular hydrostatic pressure and forces that drive fluid back into glomerulus (colloid osmotic aka oncotic pressure of glomerular blood and capsular hydrostatic pressure
The presence of what creates the colloid osmotic (oncotic) pressure?
The proteins present in the blood. Opposes filtration by holding water and ions in capillaries
What does a positive net filtration pressure of 10 mean? What if it's 0 or negative?
10 means that fluid is moving out of the capillaries into the blood stream and urine is being created. 0 means things aren't moving and there's no pee production and this is BAD
What does GFR measure?
The volume of filtrate per minute by all glomeruli in kidneys approx 120-125ml/min
GFR is governed by 3 factors. What are the 3 factors and which is the most important one?
Total surface area for filtration, filtration membrane permeability (not probz in healthy ppl)
NFP--big factor! a small drop in NFP is enough to stop filtration which is bad bad bad!
GFR and NFP are have a direct or indirect relationship?
Direct--move in same direction.
How does the body control GFR?
By changing NFP and probably other ways too
Instrinic controls to regulate GFR in the kidney work by....
renal autoregulation--adjusting resistance of blood flow to maintain steady rate of blood flow
One type of intrinsic control is myogenic mechanism. How does this mechanism work?
The stretch or lack of stretch in smooth muscle will cause either vasoconstriction or vasodilation.
Myogenic mechanism example--your blood pressure is high so your afferent arteriole is stretched. The stretch of smooth muscle will cause ______________. Why?
Vasocontriction in order to reduce the amount of blood going in, in an attempt to lower the BP
Tubuloglomerular mechanism is another type of intrinsic control involving the macula densa cells of JGA. What is the role of the macula densa cells?
Secrete vasoconstrictor in response to changes in osmolarity and filtrate flow in distal convoluted tubule (DCT)
In the tubuloglomerular mechanism, they macula densa cells secrete vasoconstrictor in response to changes. Why do they do this?
When the flow is increased, it constricts and says hey don't put so much in here.
If the afferent arteriole vasodilates, what does this do to the glomerular capillary BP, NFP, and GFR? Why is the afferent arteriole vasodilating?
Increases them. Myogenic mechanism in response to lack of stretch of smooth muscles
If the afferent arteriole vasoconstricts, what does this do to the glomerular capillary BP, NFP, and GFR? Why is the afferent arteriole vasoconstricting?
Decreases it. Myogenic mechanism in response to stretch of smooth muscles (seen in high BP or systole)
There is also extrinsic controls that regulate GFR. They change GFR by modifiying
systemic blood pressure
In cases of extreme stress, sympathetic nervous system controls override local renal control. What happens to the afferent arterioles initially and why?
The afferent arterioles constrict so blood can go to the skeletal muscles
The decrease blood flow to the kidneys is sensed by
macula densa cells
The macula dense cells stimulate juxtaglomerular cells to secrete
The secretion of renin triggers the renin-angiotensis system which increases
blood volume and blood pressure
In the RAAS system, renin catalyzes angiotensin to
What catalyzes angiotensin I to angiotensin II?
Angiotensin II is a potent vasoconstrictor that stimulates the release of _________ & _________.
Aldosterone--increased Na & H2O reabsorption
ADH-increased H2O reabsoprtion
Both aldosterone and ADH cause increases in
blood volume, blood pressure, and GFR
Renin is released by the JG cells. What causes this release?
reduced stretch of JG cells
stimulation of JG cells-MD, SNS, angiotensin II
What is tubular reabsorption?
movement of molecules from filtrate to blood
In the paracellular route of tubular reabsorption, reabsorption occurs through
tight jxns and into peritubular capillaries
In the transcellular route, a specific transporter protein is used to move substance b/t tubular filtrate and interstitial fluid. There are 3 barriers to this. What are they?
Luminal membrane of tubule cell, basolateral membrane of tubule cell, peritubular capillary wall
What ion creates the gradients in tubular reabsorption in PCT?
What does sodium drive?
Reabsorption of other substances in PCT b/c of the gradient that's created
How does sodium move through the luminal membrane?
Facilitated diffusion coupled with cotransport
How does sodium move thru the basolateral membrane?
Active transport (need energy, Na/K pump)
How does glucose and other organics move across the luminal membrane?
Contransport with Na
How does glucose and other organics move across the basolateral membrane?
Ions, water, and organics get across by
passive diffusion (sorry for weird wording in the ?)
Water follows sodium from the filtrate to blood so what does this create?
Concentration gradient so other ions follow
In the loop of Henle, what is reabsorbed?
Sodium, chloride, potassium, water
The reabsorption in the DCT is controlled by
Aldosterone targets what type of cells?
Principal cells-sodium ion reabsorption/obligatory water reabsorption.
Aldosterone causes Na ion reabsorption which causes H2O reabsorption. What does this do to the urine?
Concentrates it (not very much though)
ADH targets what cells?
What does ADH cause? What does this do to the urine?
Open or synthesize water channels. This increases water reabsorption. Concentrates it
What hormone decreases sodium and water reabsorption? How does it do so?
ANP by inhibiting the secretion of aldosterone
Some substances are not reabsorbed or incompletely reabsorbed. What are they?
Urea, uric acid, and creatine.
Each substance (except sodium) has a transport maximum aka saturation. This reflects what?
The number of carriers avaliable
What is tubular secretion?
Movement of molecules from blood into filtrate
What molecules are prevalent in tubular secretion?
Certain drugs, urea/uric acid, K+, H+, HCO3-
The kidneys are vital for maintaining body fluid concentration. What is the normal concentration? It is hormonally controlled by
To vary the concentration of urine, filtrate in the DCT & collecting ducts must be
To vary the urine concentration, an osmotic gradient must be
created and maintained in medulla
To vary urine concentration, loops of hence and vasa recta. Why?
Cause they control the reabsorption of water, Na, Cl, K, Ca, and Mg
What happens to the concentration as you move from the cortex to the medulla?
It increases-- 300,400,600,900,1200
The high interstitial osmolarity provides a gradient for water reabsorption from the collecting ducts as they pass thru the medulla on their way to the renal pelvis
The ascending limb actively transports NaCl to the interstitial fluid. What about water?
It is impermeable to water.
What happens to the filtrate concentration in the ascending limb?
The concentration decreases. But the ISF concentration increases with depth (b/c there's no H20 to dilute it)
The descending limb is permeable to H2O but impermeable to _____. What does this do to the filtrate concentration?
NaCl. Filtrate concentration increases
The cycle repeats and reaches a steady state. What is the concentration of the filtrate when it leaves?
The filtrate leaves less concentrated
The ISF of the medulla has solute concentration gradient correlated of the depth. What does this mean?
That picture! As you get deeper, the conc increases
The vasa recta are important because they help to make sure the ISF concentration gradient isn't destroyed by equilibration with blood. How do they do this?
Vasa recta walls freely permeable to H2O and NaCl. Blood equilibrates with ISF along length
Urine varies in concentration from 100mOsm to 1400mOsm, what is this dependent on?
Pee can vary in color. It can also have an odor that develops from?
Bacterial transformationof urea to ammonia
What is the pH of urine?
What is the specific gravity of urine?
Urine is ___% water?
Urine is also made up of solutes. What are some of them?
Urea, Na, K, Phosphate, Sulfate, Creatine, Uric Acid, and Others
The presence of other solutes may indicate
Glycosuria is the presence of glucose in the urine. This can be a sign of what pathology?
Ketonuria is the excessive formation and accumulation of ketone bodies. This is seen in
Starvation and untreated diabetes mellitus
Pyuria is pus (leukocytes) in the urine. It is commonly seen in
STDs and UTIs
To localize the cause of UT pain, you must asses
location, onset, quality, quantity, pattern (CA duh)
UT pain in the bladder localizes to
suprapubic to upper thich
UT pain in the ureteral is localized to
groin or genital region
UT pain renal pain is localized to
costovertebral angle in back
Renal and ureteral pain are not changed by
changing body position
Renal pain is known as
Most UT pain is referred, why?
The kidney has no pain receptors--damage occurs without nephralgia. But the capsule is innervated
Pain in lower portions of the UT are normally
A urinalysis is a starting point for a differential diagnosis. What 3 factors do you note?
Color, odor, turbidity
Dark, strong smelling odor indicates
decreased renal fxn
Cloud and pungent urine indicates
What are 2 types of congenital renal disorders?
Polycystic kidney disease
What is renal a genesis?
Absence of one of both kidneys. May be random or clearly hereditary. Can be an isolated problem or associated with other unrelated disorders
Can you survive with bilateral agenesis?
NAH... well it's usually fatal
In unilateral renal agenesis, the remaining kidney will have to compensate. How does it do so?
Compensatory hypertrophy occurs. (side note, single kidney may be abnormally formed)
Bilateral renal agenesis aka Potter Syndrome is commonly seen in males (75%). There is abnormal development of the kidneys or they just fail to develop. The infants present with ____ ________ and eventually die of ______________ ________
Specific group of facial anomalies. Infants die of respiratory distress
Polycystic kidney disease is a result of
multiple dilations of collecting ducts so they appear as fluid-filled cysts.
ARPKD is polycystic kidney disease when it is diagnosed in
infants and young children
ADPKD is polycystic kidney disease when it's diagnosed in
ARPKD is autosomal recessive polycystic kidney disease. What chromosome is affected and what is the survival rate?
Begins in utero-chromosome 6 is affected. Low survivability-but it varies in number of collecting ducts dilated. ARPKD is accompanied by hepatic fibrosis
ADPKD is a defect of chromosome __ or ___. The pathology isn't well understood but where do they think the problem stems?
9-10% of dialysis requiring kidney failure. Defect on chromosome 16 or 4. Tubular epithelial cell hyperplasia--primary cause--cysts involve entire nephron
ADPKD is seen in adults of what ages and what symptoms do they present with?
UTIs, back or flank pain, hematuria, HTN, bilaterally enlarged kidneys, renal fxn may or may not be impaired.
Eventually their poor kidneys will fail when they're in their 70s-80s
Our kidneys are normally protected from infectious disorders by
acidic pH, prevention of reflux, prostatic secretions
Infections agents are normally introduced by
retrograde flow of urine--pyelonephritis
Pyelonephritisis an infection of. Some pathways of infection are
renal pelvis and interstitium. pathways of infection are hematogenous, lympathic, urinary
Some risk factors for pyelonephritisare
vesicoureteral reflux, pregnancy, neurogenic bladder, instrumentation, obstruction, sexual trauma
Acute pyelonephritisis acute infection of . How is the infection probably spread>
one or both upper urinary tracts, severity increases with age. Infection probably spread by ascending microorganisms.
What is the inflammatory process like in acute pyelonephritis?
Focal and irregular. Seen in pelivs, calyces, medulla
The infection in acute pyelonephritis causes
medullary infiltration of WBCs with renal inflammation, edema, purulent urine
The inflammatory mediators in acute pyelonephritis cause damage to . What may also occur?
tubule cells. Necrosis of renal papillae may occur. Healing--deposition of scar tissue, atrophy of affected tubules
Chronic pyelonephritis is characterized by persistent or recurring episodes of acute that lead to
shrunken, fibrotic kidney. Parenchyma mostly replaced by fibrotic tissue. More likely when infection is related to obstruction.
Obstructive disorders (congenital or acquired) interfere with urine flow. Dilation of the proximal tract leads to
Changes in the tract depend on....
degree of obstruction, duration, timing
Hydrostatic pressure will increase where in obstructive disorders?
Know this too
i = V/ r
Ohm's law :
Complete obstruction causes hydroureter. What does this affect? What happens after 4-6 weeks?
Pressure in pelvis and tubules increases. GFR falls. BF drops-parts become ischemic. After 4-6wks-tubular atrophy and medullary destruction
What is a renal calcus?
Kidney stone-crystals of combine organic material
Kidney stones can migrate down the urinary tract and cause
pain, obstruction, infection
What is nephroliathiasis?
Presence of stone anywhere in tract
What are some factors that influence formation of a calculus?
The pathophy of a renal calculus isn't well understood. But we do know that there are conditions conducive to crystallization, cellular response to crystals, matrix to enhance mineralization, standard normal activity, and hypercalciuria
There are no symptoms of a renal calculus in pelvis. But there is a ureteral colic, which is
pain when in ureter. ureter distends behind stone
There are 3 groups of renal tumors. What are they?
Benign, primary neoplasms, secondary neoplasms. Distor kidney and renal architecture
Benign renal tumors make up a small % of renal tumors. There are 4 types. What are they?
This type of benign renal tumor is genetic and slow growing. It is asymptomatic-incidental discovery
This benign renal tumor is a congenital tumor of infancy
This benign renal tumor is seen in adults-abdominal BV, adipocytes, smooth muscle, others
Renal angiomyolipoma (hemartoma)
This benign renal tumor is common. It may be a pre-malignant adenocarcinoma. "Renal neoplasm of low malignant potential"
Renal cell carcinoma (renal adenocarcinoma) usually affects adults (males) 50-70y/o. Some risk factors are occupation exposures, high protein diet, smoking, obesity, HTN, family. Where does it form? And what are some symptoms?
From epithelium of PCT. Hematuria, flank pain, mass
Urothelial tumors are malignant and affect
lining of renal pelvis, calyces, ureter, bladder.
In the bladder. urothelial tumors are
transitional cell carcinomas and squamous cell carcinomas and adenocarcinomas
Some risk factors for urothelial tumors are
smoking, excessive coffee intake (Lindsey...), aromatic and amine exposure, UTI history, family, etc
Nephroblastoma aka Wilms tumor is the most common abdominal tumor in children. There is a defect on chromosome ____. What results due to this defect? What are some signs and symptoms?
Defect on chromosome 11. There is no normal differentiation of tubules and glomeruli. Tumor or mass of flank or abdomen. Abdominal pain, HTN, microscopic hematuria
Glomerular abnormalities result from...
alteration in structure and fxn of glomerular capillaries.
There are primary and secondary glomerulopathies. What is the difference?
In 1*, the kidney is only or predominant organ affected.
In 2*, drug exposure or infection causes glomerular injury in setting or multi system or vascular abnormalities.
Glomerulonephritis is . What is the most common cause of it?
inflammation of the glomerulus. there are a variety of causes, but the most common is chronic renal disease and end-stage renal failure
Acute glomerulonephritis is caused after an infection with. What symptoms are seen? What does the inflammation do to the glomerular membrane?
Group A post-streptococcal infection. Symptoms-hematuria, red cell casts, proteinuria, decreased GFR, oliguria, edema, HTN.
Inflammation thickens glomerular membrane
Rapidly-progressing glomerulonephritis is subacute, cresentic, extracapillary glomerulonephritis. It is seen primarily in adults and is idiopathic or with other proliferative glomerular disorders. What does crescentic refer to?
Cellular proliferation in Bowman's space-crescent lesions
Goodpasture syndrome is an anti-glomerular basement membrane disease. What happens? What is apparent at diagnosis?
Antibody formation against capillaries. At diagnosis-renal insufficeny is apparent. Injury is accompanied by rapid decline in glomerular fxn
There are several glomerular diseases that lead to chronic renal failure. What ares some pathological changes that occur?
Proliferation of meangial cells, tubular dilation and atrophy, tubulointersitial injury
In chronic glomerulonephritis, the mechanism is related to glomerulosclerosis and interstitial injury. But the primary cause is difficult to establish. What deposit or form within glomerular capillary filtration membrane?
Antigen-anitbody complexes deposit or form within glomerular capillary filtration membrane
In chronic glomerulonephritis, the glomerular cells respond to inflammatory mediators and this leads to
The severity of chronic glomerulonephritis is based on
size, number, location, duration of exposure, and type of antigen-anitbiody complexes. Clinically-urine changes
In nephrotic syndrome, there is an excretion of ___ g or more of protein in urine per day. It is characteristic of __________ _______. There is hypoalbuminemia, edema, hyperlipidemia, lipiduria. There are primary and secondary forms.
Characteristic of glomerular injury
In nephrotic sydrome, what will you see clinically?
Proteinuria and other symptoms related to loss of serum proteins
Pts with nephrotic syndrome will have edema. Why?
Plasma levels elevate in pts with nephrotic syndrome. This is known as
Pts will also exhibit hypocalcemia and hyper coagulability
Renal dysfxn classification. It can be
acute & rapidly progressing
chronic, progressing to end-stage renal failure over months or years
Renal insufficiency is a decline in renal fxn to __% of normal
Renal failure is a significant loss of renal fxn. End stage renal failure is < ___%
In renal failure, there is
azotemia, acidosis, impaired urine dilution, severe anemia, electrolyte imbalances, and GFR <20%
Therapeutic dietary intervention that includes a nutrition assessment, nutrition intervention and monitoring progress is called?
Medical Nutrition Therapy (MNT)
What are the six nutrients necessary for proper body fxn?
carbs, proteins, fats, vitamins, minerals, & water
energy yielding nutrients that are needed in higher amounts?
Macronutrients (carbs, lipids & proteins)
nutrients needed in smaller amounts?
vitamins and minerals
what are phytochemicals?
non-nutrient compounds that contribute to health
A substance that significantly reduces the adverse effects of free radicals?
How many kcals/gram do Carbs provide?
What are simple carbs?
Monosacharides (glucose, fructose & galactose)
disaccharides: (maltose, sucrose, lactose
what are complex carbs?
polysacharides,(starch, fiber & glycogen)
what is the difference between dietary fiber & functional fiber?
dietary found in foods naturally (soluble & insoluble)
Fxnable is added to food
what is glycogen?
storage form of glucose stored in the liver & muscle cells
Whole grains have what 3 parts of the grains intact?
germ, endosperm, bran
Milling (refined grains) removes what from the grain?
Bran & Germ
What is added to enriched grains?
how many kcals/gram are in proteins?
what is found in complete proteins?
9 essential amino acids + 11 nonessential =20 aa
what is the only complete protein found in plants?
what is an incomplete protein?
low is one or more essential amino acid (such as plant proteins)
How many kcals/gram are found in Fats?
what are the 4 categories of fats?
What are the types of fatty acids?
What is trans fat?
made by hydrogenation, which makes it harder to digest and your body recognize it as a saturated fat
Trans fats do what?
raise LDL lower HDL
what is so bad about Trans Fats? they taste great!
well they raise your LDLs and lower your HDLs
What is linoleic acid?
a type of fat, or fatty acid (omega 6), found in vegetable oils, nuts, seeds and animal products. (we get plenty of this one)
what is alpha-linoleic acid?
omega 3s. used to make EPA and DHA
what are the fat souble vitamins?
What are the Major minerals?
Ca, Phospherous, magnesium, potassium, sodium, chloride
what are the best ways to reach your nutrient needs?
well balanced diet with variety, portion control, energy balance & nutrient dense foods
what is energy density?
energy value of a food in relation to the foods weight
what are your dietary reference intakes?
What is different about the new nutrition labels coming out?
-Calories are in bigger letters
-Vitamin D, C & Potassium are now at the bottom
-calories from fat removed
what are the 5 mjr food groups?
fruits, veggies, proteins, grains, dairy
how do you integrate nutrition into care?
look at PMH, FH, SH, & diet histroy
how does 24 hour dietary recall work?
recall from last food eaten to 24 hours ago, includes quantities
What is a "usual intake" type of diet history?
helpful for elderly or kids. reflects long term dietary habits
Some endocrine/reproductive effects due to CRG include
drop in circulating sex steroids, hyperinsulinemia
main (largest) portion of the brain, occupying the upper part of the cranial cavity; its two hemispheres, united by the corpus callosum, form the largest part of the CNS in humans.
Main (largest) portion of teh brain, occupying the upper part of teh cranial cavity; its two hemispheres, united by the corpus callosum, form the largest part of the CNS in humans
situated on the back of the brain stem; consisting of a media lobe(vermis) and two lateral lobes (the hemispheres)
Situated on the back of the brain stem; consisting of a median lobe (vermis) and two lateral lobes (the hemispheres)
the stemlike portion of the brain connecting the cerebral hemispheres with the spinal cord and comprising the pons, medulla oblongata, and midbrain.
located between the cerebrum and midbrain, it contains the thalamus, hypothalamus, and pineal gland; involved in controlling body temperature, sleep, appetite, blood pressure, and sexual activity.
comprising the forebrain, midbrain, and hindbrain
White matter: inner portion
Gray matter: outer portion
that part of the central nervous system lodged in the spinal column
White matter: outer portion
Gray matter: central portion
the three membranes covering the brain and spinal cord: dura mater, arachnoid, and pia mater.
inflammation of the meninges caused by bacteria, viral, or fungal infection
the outermost, toughest of the three meninges membranes of the brain and spinal cord
the delicate membrane interposed between the dura mater and pia mater
the innermost of the three meninges covering the brain and spinal cord
fluid within the ventricles of the brain, the subarachnoid space, and the central canal.
the 12 pairs of nerves emerging from the cranial cavity through various openings in the skull.
sense of smell
movements of the eye
muscles of the eyes
hernial protrusion of the meninges through a bone defect in the cranium or vertebral column; may be repaired surgically
brain and cord contain areas of degenerated myelin. Symptoms of lesions include weakness, incoordination, speech disturbances, and visual complaints.
What is multiple sclerosis?
Chronic demyelinating disease of CNS--problems getting impulses out where they need to be
Inflammation and sclerosis of myelin sheaths on nerves
Unpredicatable, symtoms vary
a progressive neuromuscular disorder characterized by chronic fatigue and muscle weakness; considered to be an autoimmune disease. Antibodies block and destroy receptors at the myoneural junction because of a deficiency of acetylocholine.
see pg 214 in medical terminology book
lack of muscle strength
a progressive neuromuscular disorder characterized by chronic fatigue and muscle weakness; considered to be an autoimmune disease. Antibodies block and destroy receptors at the myoneural junction because of a deficiency of acetylcholine. The onset of symptoms is gradual, with drooping eyelids, difficulty speaking and swallowing, and weakness of the facial muscles; the weakness may then extend to other muscles enervated by cranial nerves, especially the respiratory muscles. The disease occurs most often in women than men, with onset between ages 20 and 40 years in women, and in older men between ages 50 and 60 more often than in younger men
disease of cranial and peripheral nervous system; motor, sensory, and reflex impairment.
organic brain syndrome (chronic brain syndrome)
any mental disorder caused by impairment of brain tissue function; may be acute and reversible, caused by injury, infection, and nutritional deficiency, or chronic, resulting from relatively permanent organic impairment of brain tissue function.
a slowly progressive, degenerative, neurologic disorder characterized by resting tremor.
petit mal seizures
also called absence seizure, the petit mal is a minor seizure lasting only a few seconds. The person has a momentary clouding of consciousness, may have a blank facial expression, and blink the eyes rapidly; the duration of the seizure is 5-10 seconds. The individual may not be aware of the episode. It is more frequent in children.
petit mal seizures
also called absence seizure, the petit mal is a minor seizure lasting only a few seconds. The person has a momentary clouding of consciousness, may have a blank facial expression, and blink the eyes rapidly; the duration of the seizure is 5-10s. The individual may not be aware of the episode. It is more frequent in children
an acute viral disease with fever, sore throat, headache, vomiting, and often stiffness of the neck and back; may be minor or major; can be prevented by vaccination.
severe pain in the leg along the course of the sciatic nerve; also pain radiating into the buttock and lower limb, most commonly caused by herniation of a lumbar disk.
radicular gluteal and posterior leg pain in the S1 distribution that increases with cough or valsalve.
severe pain in the leg along the course of the sciatic nerve; also pain radiating into the buttock and lower limb, most commonly caused by herniation of a lumbar disc
ie using a catheter to drain fluid from brain cavities to the spinal cord.
to bypass, e.g., using a catheter to drain fluid from brain cavities to the spinal cord
spinal cord injuries
a traumatic disruption of the spinal cord, with extensive musculoskeletal involvement; spinal fractures and dislocations are common in car accidents and airplane crashes can cause varying degrees of paraplegia and quadriplegia.
see pg 214
beneath the dura mater, usually a result of a closed head injury, acceleration-deceleration injury, use of anticoagulants, contusions, or chronic alcoholism; they are largely a result of venous bleeding
see page 215
an inherited inborn error of metabolism in which there is an enzyme deficiency causing altered lipid metabolism; deficiency of this enzyme results in accumulation of a specific lipid in the brain, which leads to physical and mental retardation
benign or malignant, primary or metastatic; may be classified by location, tissue type, or degree of malignancy ie gliomas, neuromas.
tumors (cord, brain)
benign or malignant, primary or metastatic; may be classified by location, tissue type, or degree of malignancy
a popular term for an acute cervical sprain; acceleration extension injury of the cervical spine.
a radiopaque substance is injected into arteries in the neck, then x-ray films are taken.
reflex response; when sole of foot is stroked, the big toe turns up instead of down ( normal in newborn, but pathological later on)
holes made with a drill creating openings in bone to permit access for biopsy, insertion of drains for relieving pressure, or for monitoring devices.
holes made with a drill creating openings in bone to permit access for biopsy, insertion of drains for reliving pressure, or for monitoring devices
3D view of brain tissue obtained as x-ray beams pass through layers of the brain. A CT scan will show areas of tumors, hemorrhage, blood clots, aneurysms, MS, and brain abscess; contrast medium may also be injected by IV to better visualize abnormalities.
cutting of nerve fibers to relieve intractable pain.
any operation on the cranium, ie puncture of the skull and removal of its contents to decrease the size of the head of a dead fetus and aid in delivery.
use of ultrasound to show displacement of brain structures.
record of electrical activity of the brain
examination of cerebrospinal fluid (cell counts, culture, blood)
excision of the posterior arch or a vertebra to view the spinal cord or to relieve pressure
magnetic resonance imaging (MRI)
see pg 216
the film produced by myelography; ie injection of a dye into the subarachnoid space to detect tumors or herniated disks
the film produced by radiography of the spinal cord after injection of a dye into the spinal cavity
injection of anesthetic into a nerve to produce the loss of sensation
nerve cells (neurons)
conducting cells of the nervous system, consisting of a cell body containing the nucleus and its surrounding cytoplasm, and the axon and dendrites; specialized cells for transmitting impulses.
the radiograph obtained by visualization of the fluid-containing structures of the brain after cerebrospinal fluid is intermittently withdrawn by lumbar puncture and replaced by air, oxygen, or helium.
positron emission tomography (PET) scan
images of various structures show how the brain uses glucose and gives information about brain function; PET scans are used to asses Alzheimer's, stroke, epilepsy, and schizophrenia as well as study and diagnose brian tumors.
positron emission tomography (PET) scan
images of various structures show how the brain uses glucose and gives information about brian function; PET scans are used to assess ALzheimer's, stroke, epilepsy, and schizophrenia as well as study and diagnose brain tumors
cutting the roots of spinal nerves to relieve incurable pain
a test of the sense of balance, ie the patient may lose balance when standing erect, feet together, and eyes closed.
a test of the sense of balance, e.g., the patient may lose balance when standing erect, feet together, and eyes closed
drilling a hole in the skull to evacuate clots or injet air for a diagnostic procedure.
drilling a hole in the skull to evacuate clots or inject air for a diagnostic procedure
surgical transection of the fibers of the vagus nerve
radiography of the cerebral ventricles after introduction of air or other contrast medium
the feeling experienced in connection with an emotion
hostile attitude; may be caused by insecurity or inferiority feeling
conflicting emotional attitudes toward a goal
conflicting emotional attitudes toward a goal, e.g., hate or love
loss of memory
developmental disorder characterized by the inability to form social relationships and communicate with others.
brain disorder in which the individual experiences extremes in energy, mood, and behavior- between mania and depression that interfere with the ability to carry out day to day activities; also called manic depressive illness.
brain disorder in which the individual experiences extremes in energy, mood, and behavior between mania and depression that interfere with the ability to carry out day-to-day activities; also called maniac-depressive illness
excessive violent motor activity or lack of reaction and movement; observed in schizophrenia
a mental disturbance of relatively short duration, ie illusion, hallucinations, and excitement
a mental disturbance of relative short duration, e.g., illusions, hallucinations, and excitement
in psychiatry, a morbid sadness, dejection, or melancholy; a decrease of body functions
a false personal belief
automatic repetition by a patient of what is said to him or her.
introducing convulsions by means of electricity; used on patients with affective disorders.
hearing or seeing things not really present.
extremely emotional state
disabling brain disorder that interferes with normal activities of working, eating, sleeping, and enjoying usual activities; most patients require treatment (medications and/or therapy) to improve after a depressive episode
disabling brain disorder taht interferes with normal activities of working, eating, sleeping, and enjoying usual activities; most patients require treatment (medications and/or therapy) to improve after a depressive episode
make believe, i.e. pretending to be ill.
make believe, e.g., pretending to be ill
belief in one's own extreme greatness, goodness, or power.
mental and physical exhaustion as a result of psychological stress, conflict, or depression; similar to chronic fatigue syndrome.
an emotional disorder caused by unresolved conflicts, anxiety being its chief characteristic; person is still in touch with reality.
a person who is overly suspicious with feelings of being persecuted or having delusions of his or her abilities or power that are not consistent with reality.
any persistent abnormal dread or fear
a major mental disorder with a loss of contact with reality; characterized by delusions and hallucinations; often part of schizophrenia and severe depressive disorders.
rapid eye movements (REM)
occur during periods of dreaming
a chronic, severe, and debilitating brain disorder characterized by visual and auditory hallucinations and delusions as well as disordered thoughts. Most individuals with schizophrenia are not able to hold a job or care for themselves.
loss of the ability to speak owing to injury or disease of the brain centers
failure of muscular coordination
the process of furnishing a person with information on the state of one or more physiologic variables, such as heart rate, blood pressure, or skin temperature, often enabling the person to gain some voluntary control over the body function.
the collection of spinal roots descending from the lower spinal cord and supplying the rectal area
in deep stupor; cannot be aroused
denoting an injury to the brain, occurring at a site opposite to the point of impact.
deep tendon reflex
a reflex elicited by a sharp tap on the appropriate tendon or muscle to induce brief stretch of the muscle, followed by contraction
many meanings; one refers to a deep furrow in the brain
many meanings; one refers to a deep furrow in teh brain
weak, lax, soft, flabby; poor muscle tone.
a large opening in the occipital bone through which the spinal cord passes.
a knot; a group of nerve cell bodies, located outside the central nervous system.
a knot; a group of nerve cell bodies, located outside teh CNS
convolutions of the cerebrum.
either half of the brain
situated on or affecting the same side.
the part of the brain associated with attitudes and emotional behavior
an instrument for measuring the pressure, i.e. of spinal fluid.
an instrument for measuring the pressure, e.g., of spinal fluid
neurilemma (sheath of Schwann)
the membrane surrounding the peripheral nerves
inability to use muscles because of damage to the nervous system
loss of muscular contraction because of nerve damage
slight or incomplete paralysis
an abnormal sensation, such as burning or prickling
a network of nerves or blood vessels
an involuntary response to a stimulus
uncontrollable and forced contractions
any agent, act, or influence that produces a reaction or response.
a groove, trench, or furrow on the brain surface.
a faint; temporary loss of consciousness
a faint, temporary loss of conscioussness
a small cavity in the brain.
one of the two lower chamber of the heart, pump blood from the heart
an appendage; limb
a line that passes through the center of the body traversing skull, thorax, and vertebral column.
a line that passes thorugh the center of the body traversing skull, thorax, and vertebral column
the light and spongy bone at the base of the cranium; the upper nasal bone between the eyes.
large bone constituting the lower jaw
one of a pair of large bones forming the upper jaw
the cup like bone at the back of the skull
the cuplike bone at the back of the skull
bone of the skull (top of the head)
parietal bone of the skull (top of the head)
bone at the base of the skull, anterior to the temporal bones
large bones forming part of the temples
muscle above the ear; used for opening and closing the jaw
cone-shaped nasal bone
a long, curved, horizontal bone just above the first rib (collar bone)
the thigh bone, extending from the pelvis to the knee
the thigh bone, extending from the plexus to the knee
fibula and tibia
the fibula is the smallest of the bones of the leg; the tibia is the second longest bone of the skeleton, located at the medial side of the leg
fibula and tibia
the fibula is the smaller of the bones of the leg; the tibia is the second largest bone of the skeleton, located at the medial side of the leg
upper-arm bone, consisting of a body, head, and the condyle
radius and ulna
the radius is the larger of the two bones of the forearm; the ulna is the bone on the medial or little-finger side of the forearm, lying parallel with the radius.
radius and ulna
the radius is the larger of the two bones of the forearm; the ulna is the bone on the medial or litte-finger side of the forearm, lying parallel with the radius
the elongated, flattened bone forming the middle portion of the thorax (breast bone)
the elongated, flattened bone forming the middle portion of the thorax (breastbone)
the flexible structure that forms the longitudinal axis (backbone) of the skeleton; it consists of 26 separate vertebrae arranged vertically from the base of the skull to the coccyx (tailbone)
point of attachment for muscles of head and throat
two bones that house the tear ducts
two bones that shape the nose
forms the hard palate (roof of the mouth)
lower part of the nasal septum
two bones, one on each side of the face, that forms the high part of the cheek bones and outer eye
two bones, one on each side of the face, that form the high part of the cheek bones and outer eye socket
ball and socket
joint in which the globular head of an articulating bone is received into a cup like cavity, ie the hip and shoulder.
ball and socket
a joint in which the globular head of an articulating bone is received into a cuplike cavity, e.g., the hip and shoulder
hinge joint, ie elbow, knee, and fingers
hinge joint, e.g., elbow, knees, and fingers
lines of junction between the bones of the skull
the fibrous substance between the disks of the spinal vertebrae
a flattened tendon, connecting a muscle with the parts it moves
a fluid-filled sac located in tissues to reduce friction
a sheet of fibrous tissue holding muscle fibers together
between two contiguous joints and phalanges. ie between the fingers and toes
between two contiguous joints and phalanges, e.g., between the fingers and toes
the flattened part of the vertebral arch (thinnest part of a vertebra)
a band of fibrous tissue connecting bones or cartilages
a crescent-shaped fibrocartilage in the knee joint
the transparent, viscid fluid found in joint cavities, bursae, and tendon sheaths.
a fibrous cord of connective tissues attaching the muscle to bone or cartilage
a case or sheath of a tendon
the cup-shaped cavity (socket) receiving the head of the femur
holes in bone for large vessels and nerves to pass through
a hollow or depressed area
a narrow, linear hollow or depression in bone
a rounded process, such as the protuberance on either side of the ankle joint, at the lower end of the fibula or the tibia.
bony projection of the ulna at the elbow
protrusion or projection
one definition is a recess, cavity, or channel, such as one in bone.
one definition is a rescess, cavity, or channel, such as one in bone
an elevation or protuberance, especially of a bone
muscle extending from scapula to radius; used to flex lower arm and turn palm of hand upward
fleshy part of the cheek; used to smile, blow outward, and whistle
specialized muscle found in the walls of the heart; involuntary muscles, controlled by the autonomic nervous system.
muscle covering the shoulder joint; extends from clavicle and scapula to humerus, and abducts the shoulder
main calf muscle; attaches to heel bone
fleshy part of the buttocks; extends from ilium to femur. Extends and rotates hip laterally.
muscle in posterior thigh used for flexing knee, as in kneeling, and for hip extension
muscle extending from lower vertebrae to humerus; used for adduction of the shoulder joint.
muscle at angle of jaw; used for biting and chewing
body of the eyelid, opens and closes the eye, wrinkles forehead.
body of the eyelid, opens and closes the ye, wrinkles forehead
muscle surrounding the mouth; closes and purses the lips
large, fan-shaped muscle across front of the chest; adducts, flexes, and rotates the shoulder joint inward
large, fan-shaped muscle across front of teh chest; adducts, flexes, and rotates the shoulder inward
anterior thigh muscle; part of five-muscle group that extends the knee and flexes the hip
also called striated (striped) or voluntary muscles; muscles attached to skeletal bones except for face, eyes, tongue, and throat. Under conscious control.
muscles found in the wall of the stomach, intestine, blood vessels, and respiratory tract; also called involuntary or visceral muscle (not under conscious control)
muscles found in the wall of the stomach, intestine, blood vessels, and respiratory tract; also called involuntary or visceral muscle
muscle extending from sternum to side of the neck; used for turning the head
triangular muscle extending from back of shoulder to clavicle; used to raise shoulders
muscle extending from scapula to ulna; responsible for extending the elbow
muscle extending from scapular to ulna; responsible for extending the elbow
the movement by which the two ends of any jointed part are drawn away from each other; straightening.
to draw toward the axial (median) line
to draw toward the axial line
to draw away from the axial (median) line
to draw away from the axial line
the prone position (palm down, face down)
palm or face upward
nearest to a point of reference or origin
farthest from any point of reference or origin
permanent contraction of a muscle
wasting away of muscle from disuse
muscle enlargement from overuse
normal degree of vigor and tension in a muscle; muscles partially contracted
the breaking of a bone; there are many types
a fracture of the bony structure of the head
torn ligament, tendon, or cartilage
a complete or partial tear of a ligament, tendon, or cartilage; common sports injuries.
forward displacement of a vertebra over a lower segment; a type of dislocation
inflammation of a joint; there are four common types.
inflammation of a bursa
carpal tunnel syndrome
a common painful disorder of the wrist and hand, caused by pressure on the median nerve in the wrist.
carpal tunnel syndrome
the disorder is largely due to the result of repetitive overuse of the fingers, hands, or wrists, which causes inflammation of the median nerve in teh tunnel. Symptoms are intermittent or continuous pain, especially at night; treatment involves anti-inflammatory drugs, splints, physical therapy, and ceasing the overuse. If the measures fail, surgical measures to relieve the pressure may be necessary
a group of diseases with widespread pathologic changes in connective tissue, ie lupus erythematosus, dermatomyositis
a group of diseases with widespread pathologic changes in connective tissue, e.g., lupus erythematosus, dermatomyositis
a hereditary form arthritis caused by accumulation of uric acid crystals, especially in the great toe
herniated nucleus pulposus
a rupture of the fibrocartilage surrounding an intervertebral disk,releasing the nucleus pulposus that cushions the vertebrae above and below.
humpback or hunchback; a spinal deformity
osteochondrosis of the head of the femur in children.
exaggerated forward curvature of the lumbar spine
see systemic lupus erythematosus
a chronic inflammatory disease affecting many systems of the body
genetic disease with progressive atrophy of skeletal muscles.
inflammation of a voluntary muscle
inflammation of the tibial tubercle caused by chronic irritation and seen primarily in muscular, athletic adolescents; characterized by swelling and tenderness over the tibial tubercle that increases with exercise.
inflammation of the bone and cartilage
disease of the bone and cartilage
softening of the bones resulting from vitamin D deficiency
inflammation of bone and marrow caused by bacterial invasion
inflammation fo bone and marrow caused by bacterial invasion
porous condition of bones; occurs primarily in postmenopausal women
is also common in hepatic and renal disease
disorders marked by inflammation, degeneration, or metabolic derangement of the connective tissue structures, especially the joints and related structures, and attended by pain, stiffness, or limitation of motion.
vitamin D deficiency, especially in infancy and childhood, marked by bending and distortion of the bones.
What is rickets?
retarded growth , swelling and tenderness at end of long bones. joints malform, bow legs
a malignant tumor of bone
lateral curvature of the spine
Scoliosis may cause ___
elevation of one shoulder.
a congenital defect in the spine
a conenital defect in the spine
inflammation of the vertebrae, commonly progressing to eventual fusion of the involved joints
-knees bent body arched forward due to inflammation of spine and SI Joint. This alters how they walk
- 95% due to B27 positive (variation of B allele) part of the MHC I allele
systemic lupus erythematosus (SLE)
a chronic inflammatory disease affecting many systems of the body
inflammation of a tendon
What is the major function of the respiratory system?
What part of respiration moves air in & out of lungs?
Pulmonary ventilation- breathing
What is occurring in external respiration?
O2 and CO2 exchange between the lungs and blood
In this part of respiration, there is exchange of gases (O2, CO2) between the blood and tissues throughout the body
Why do we breathe?
To power cellular respiration (use of O2 and production of CO2)
Respiratory pressures are expressed relative to atmospheric pressure. What is the respiratory pressure at sea level?
O (760 mmHg)
Negative respiratory pressure is ______ in relation to atmospheric
Positive respiratory pressure is ______ atmospheric pressure
Air moves from _______ to ________ pressure
Intrapulmonary pressure is the pressure in the lungs (within alveoli). It fluctuates but always _____
Equalizes with atmospheric so it will be 0
Intrapleural pressure is in the pleural cavity (between parietal and visceral pleura). It must be _____ than intrapulmonary pressure. Why?
Lower (-4mmHg) if has to be below atmospheric or the lungs will collapse. There are 2 competing forces that keep the lungs expanded-ones that try to compress lungs and ones trying to keep the lungs expanded. Neither one ever wins FYI
What are some factors that are trying to compress the lungs?
Elasticity of lungs and surface tension of H2O in alveoli
What are some forces that are trying to keep the lungs expanded?
Elasticity of the thoracic wall and surfactant
The transpulmonary pressure is the difference between intrapulmonary and intrapleural pressure. What is this pressure responsible for?
Keeps air spaces of lungs open and keeps lungs from collapsing
Pulmonary ventilation is a mechanical process that depends on
volume changes in thoracic cavity
What does Boyle's law say?
At a constant temp, pressure of a gas varies inversely with its volume. As the pressure increases, volumes decreases and vice versa.
What happens to the volume and pressure when the thoracic cavity expands?
The volume increases and pressure decreases
Air follows its
Inspiration is the process of bringing air in and it's controlled by
During inspiration, what happens to the diaphragm?
It contracts. Flattens and moves inferiorly (down) making cavity bigger.
During inspiration the diaphragm
contracts, descends in the chest, and expands the thoracic cavity, compressing the abdominal contents and pushing out the abdominal walls.
The external intercostals are used during deep inhalation. How do they contribute to inspriation?
During inspiration, the thoracic cavity volume increases to about ___ ml. Intrapulmonary pressure decreases to ___ mm Hg. When does air move in?
Air moves in once pressure is below 0
The inspiratory muscles contract causes the thoracic cavity to expands, which decreases pressure. What does this do to the intrapleural pressure, transpulmonary?
Intrapleural becomes more negative. Transpulmonary pressure becomes more positive.
When the lungs expand, what happens tin terms of volume and pressure?
The volume increases and pressure drops. This causes the intrapulmonary pressure to become subatmospheric and air flows into the lungs
Expiration is controlled by
muscle relaxation so its a passive process
As the inspiratory muscles relax, what happens in the lungs?
The lungs recoil and the volume goes down and increase intrapulmonary pressure
During expiration, what happens to the volume of the thoracic cavity?
What happens to the intrapulmonary pressure during expiration?
It becomes 1mmHg and air moves out
When flexibity is impaired, what muscles are used?
Internal intercostals--active process
During expiration, the respiratory muscles relax. The thoracic cavity decreases in size. What happens to the intrapulmonary and transpulmonary pressure?
Intra-becomes less negative
As the lung size decreases, intrapulmonary presssure
Since the intrapulmonary pressure is now greater than atmospheric what happens?
Air moves out
One factor affecting ventilation include airway resistance. How does this affect it?
Constriction of bronchiole wall like in inflammatory conditions where histamines are released.
Another factor affecting ventilation is lung compliance. Why would this affect it?
Its the ability of lungs to expand. If the elasticity is affected, then the lungs can't return to normal after they've been stretched. Surface tension of alveolar fluid (preemies)
What does Dalton's law of partial pressure say?
The total pressure exerted by a mixture of gases is the sum of the pressures exerted independently by each gas in the mixture. The pressure exerted by each gas (partial pressure) is directly proportional to the percentage of that gas in the mixture. Partial pressure =(%x atmospheric) x 100
Which law says that the amount of a gas that will dissolve in a liquid is in direct proportion to its partial pressure above the surface of the liquid?
Henry's law. At equilibrium, gas partial pressures in two phases are equal.
What determines the direction and movement of each gas?
Partial pressure (mainly)
How much gas will dissolve in liquid at a given partial pressure also depends on
solubility of gas and temp of liquid
Air gasses have different solubilites in water (plasma). What has the greatest solubility and what does this mean?
CO2 greatest solubility so it takes least amount of force to move it in/out of fluid.
Solubility _______ as temperature increases.
Decreases--not much of a role in the human body. But just an FYI this is why pop goes flat when you leave it sitting out
The composition of alveolar air--gas mix in alveoli different from atmosphere due to..
Gas exchange in lung-CO2 going out O2 going in
Humidification of air (breathe in, nose humidifies it, increases H2O conc in alveoli)
Mixing of alveolar air with each breath
Alveolar air has ____ CO2, _____ H2O vapor, and _____ O2. (more/less)
More H2O vapor
What gas exchange occurs during external respiration?
O2 enters and CO2 leaves blood in lungs
In what type of respiration, do gases move in opposite direction by same mechanism (diffusion) between blood and body tissues?
Pulmonary gas exchange during external respiration oxygenates the blood in the lungs. The movement of O2 and CO2 across respiratory membrane is influenced by what 3 factors?
Partial pressure gradients and gas solubilities
Structural characteristics of respiratory membrane
The PO2 in venous blood is 40mmHg. The PO2 in alveoli is 104mmHg. There is a steep O2 partial pressure gradient (since O2 is relatively insoluble). Equilibrium is reached in .25 sec.
CO2 opposite direction. PCO2 venous blood 45mmHG. PCO2 alveoli 40mmHG. Blood to alveoli so it can be expelled. Equal CO2 and CO2 exchanged mmHg #s are different based on solubility (CO2>O2)
Couples ventilation (gas reaching alveoli) to perfusion (blood flow in pulmonary capillaries) is controlled by auto regulatory mechanisms. If there is inadequate ventilation (low PO2), what happens?
Terminal arterioles constrict and reduce BF to that part of lung. Blood is redirected to areas with high PO2-to send blood to particular areas
During ventilation maximal, what happens?
What controls the constriction or dilation of blood vessels?
High PCO2 (poor ventilation) will cause
dilation of bronchioles to bring more air in (arterioles constrict d/t reduced oxygen--increasing airflow reducing blood flow-work hand in hand. This increases airflow in areas with poor ventilation
Low PCO2 will cause
constriction of bronchioles and arterioles dilate
Are ventilation and perfusion perfectly balanced?
Nah unfortunately. Blood shunting
Clogged alveolar ducts
Healthy lungs have a respiratory membrane thats efficient for gas exchange. The greater the surface area,
A number of procedures can be used to isolate DNA fragments of interest. What are some examples?
PCR, restriction enzyme digest, DNA sonication and fractionation, chemically synthesized oligonucleotides
Following ligation, plasmid is transformed into bacteria for propagation. Bacteria are plated on selective agar.
Selection usually occurs thru antibiotic resistance markers. Which allows what?
Only cells which have the vector to survive
Other cloning factors contain color selection, but there is no guarantee that
insert is present
Libraries contain a collection of clones. Each carries a vector with
different DNA fragment. If collection is sufficiently large, will theoretically contain all sequences from original DNA source. Can screen library to find DNA fragments of interest
A genomic library consists of population of host bacteria (or yeast), each carrying DNA fragment inserted into cloning vector. What does this represent?
Entire genome of source.
Term genomic library also applies to collection of all vector molecules prior to host insertion
What are the 4 types of vectors and their kb capacity?
Plasmids-10kb good for single stretch of DNA
YAC-1000kb (human genome project in yeast)
For genomic libraries, you follow general cloning procedures then...
Screen DNA fragments on gel for suitable sizes. Vectors introduced into host cells
cDNA library is a collection of cloned cDNA fragments inserted into host cells. What is cDNA produced from?
Fully transcribed mRNA--lacks introns (eukaryotic)-readily expressed but lacks info on enhancers, introns, and other regulatory elements
cDNA is created from mature mRNA using
What does reverse transcriptase do?
Creates DNA inserts from RNA--reverses central dogma of biology (DNA--RNA--Protein)
Library screening is often done by
nucleic acid hybridization
Mixing in ss-DNA will form stable ds-DNA with sequence of interest. The usefulness of probes relates to
their specificity in a mixture
Probes are tagged for ID. Probes come from many sources which include
genomic or cDNA libraries
PCR produced by DNA fragments
Chemically synthesized DNA/RNA
To examine RNA or DNA from a gene, you must
distinguish from all other fragments in sample. Use gel electrophoresis to separate by size. Nucleic acid hybridization to find molecule of interest
What is southern blotting used for? What techniques does it combine?
Used to check for presence of a DNA sequence in a DNA sample.
Combines agarose electrophoresis, transfer methods, probe hybridization
What are used for cleavage in southern blotting?
DNA fragments are electrophoresed to separate by .The DNA gel is placed in alkaline (NaOH) solution.. why?
size. DNA gel placed in alkaline solution to denature the ds-DNA
Nitrocellulose membrane is place on gel (?) Pressure is applied--why?
Capillary action with appropriate buffer causes DNA to move from gel onto the membrane. The ion exchange interactions bind the DNA to the membrane
The membrane is exposed to hybridization and what is determined?
Single DNA fragment with specific sequence. Excess probe is removed, results are visualized
Hybridization of the probe to a DNA fragment on the filter membrane indicates
The fragment contains DNA sequence complementary to probe. Its difficult to identify mutations w/ southern blotting. Only those that affect size of fragment will be picked up
With some genetic diseases, same mutation affects one or a small number of bases. One can target the DNA analysis to look for specific mutation. What is the best probe to do so?
Use of synthetic oligonucleotide (allele-specific oligonucleotide probes)
Why are ASOs used versus a southern blot?
Used to see changes too small for traditional Southern blot analysis. Can tell apart normal homozygous, mutant homozygous, heterozygous
Northern/RNA blotting is used to analyze RNA and determine size/abundance of specific RNA. No endonuclease cleavage--involves size separation and membrane transfer. It isn't used much anymore, why?
Replaced by PCR
PCR is used to
amplify single or few copies of a piece of DNA by several order of magnitude. it creates millions of copies. Consists of thermal cycling and enzymatic replication
In order to run PCR, it requires
It requires primers complementary to target region and DNA polymerase
In PCR, the DNA produced is used
as template for further replication, it created chain run for exponential amplification
PCR must use heat stable DNA polymerase. What is the common polymerase that survives thermal cycling?
PCR assembles new DNA strands from nucleotides and uses ss-DNA template and DNA primers for
PCR uses thermal cycling--alternating heating and cooling PCR is defined steps. What is this purpose of this?
Heat separates DNA strands to create templates. Cooler temperatures are where DNA synthesis occurs
DNA sequence analysis is critical for
predicting the amino acid sequence encoded by a gene. also used to detect individual mutations, designing ASO probes and PCR primers. Sanger sequencing-DNA fragments are tagged with different color probes--each color corresponds to nulectodie
Cytogenetics is the study of
chromosomes, their structure, and inheritances. major category of genetic disease comes from chromosome disorders
1% live births 2% pregnancies
What are some clinical indicators for chromosome analysis in a couple trying to conceive?
Problems of early growth and development in a previous child
stillbirth and neonatal death
advanced maternal age >35
Abnormal # of chromosome or alterations in chromosome structure can occur be ___________ or _________. Radiation, viruses, chemicals, advanced maternal age, parental chromosome abnormalities are risk factors.
Mitotic-only effects tissue where it occurs
Meiotic-sperm and egg will effect bunch of shit
1/200 newborns has a chromosomal abnormality
What is aneuploidy?
Improper chromosome #-46 is normal
Nondisjunction--the failure of homologues to separate can result in
monosomic and trisomic gametes
What happens in anaphase late?
One chromosome left out of new nucleus due to lag--results in monosomic and normal gametes
What is too many chromosomes known as?
Which type of polysomy is not compatible with life?
Autosomal polysomy=conditions like down sydrome
Abnormal chromosome structure is usually d/t breakage and loss or rearrangement of chromosomal sections. Most of the time it's repaired, but when it isn't abnormal structures occur. Most commonly mistakes occur during
Crossing over. It can vary from insignificant to fatal
What is the long arm of the chromosome? The short arm?
Long arm-q arm
Short arm-p arm
What is the exchange of portions of non-homologous chromosomes that results in abnormal chromosome structure?
What is the removal and reverse attachment of a portion that results in abnormal chromosome structure?
What is the loss of chromosomal material that results in abnormal chromosome structure?
What are extra copies that cause abnormal chromosome structure?
Trisomy 21 aka Down Sydndrome is the leading cause of mental retardation. What are some signs these children display? What is it associated with?
Mental retardation, protruding tongue, low-set ears, epicathal folds (eyes), poor muscle tone, short stature, congenital heart deformities, increased risk of resp infections and leukemia. Increased maternal age
Trisomy 18, Edwards syndrome and Trisomy 13, Patu syndrome are 2 other examples of autosomal chromosome disorders. How do they compare to down syndrome?
Less common and more severe--life expectancy is a few weeks
Cri du Chat syndrome is caused by
Deletion of short arm of chromosome 5. Babies have severe retardation, round face, heart anomalies. Cry sounds like a cat (how annoying). Survivable for a few weeks, but some live up to 30-40 y/o
Trisomy 18 babies have some key features. What are they?
Small mouth, small jaw, short neck, shield chest or short and prominent sternum and wide-set nipples, flexed big toes, prominent heels, clenched hands with overlapping fingers, dysplastic or malformed ears, occiput or back part of skull is prominent
Babies with Trisomy 13 have distinctive features that include
smell head, absent eyebrows, cleft lip and or palate, dysplastic or malformed ears, clenched hands and polydactyly, undescended or abnormal testes
Klinefelter syndrome is a sex chromosome disorder where there is
an extra X.
XXY, XXXY, XXXXY
The extra X in Klinefelter's syndrome causes
Feminization, lack of testosterone, testicular atrophy, infertility, tall, long appendages, feminine hair distribution, gynocomastia, high voice
In Turner's syndrome, there is no . Individuals will exhibit
Y--monosomy X. The females will have no ovarian development. Also with abnormal second X (paternal). Short stature, webbed neck, fibrous ovaries, sterility, ammenorrhea, wide chest, heart defects
Some females have multiple X chromosomes. How does this affect them?
Normal appearance but menstrual abnormalities
Males can have double Y chromosomes, this is common. They are usually ________ & ________ than average
Taller and angrier
What is mitosis?
Production of somatic cells (any cell other than gametes)
Growth, differentiation, repair
Somatic cells are diploid (2N)
What is meiosis?
Production of gametes (sperm cells, eggs). Doesn't begin until organism is capable of sexual reproduction. Gametes are haploid (1N)-not identical
Mitosis only occupies a small portion of the cell's life cycle. What is the period between mitoses where most cellular activities are performed?
Interphase is broken into sub phases. What are they are what occurs in them?
G1-period of rapid growth and development (1st gap)
S-synthesis phase (DNA replicated)
G2-final growth and prep for M phase
M phae-mitosis & cytokinesis, splits into 2 daughter cells
Progression thru the cell cycle is controlled by checkpoints. What are the 3 checkpoints and a little summary of them?
G1-restriction, cells go thru a series of checks (am I needed, is there enough stuff for me to live?) If yes then they pass thru the checkpoint, if not enter G0
G2 checkpoint-cell checks to make sure DNA was copied correctly. Will try to fix bad DNA or apoptosis occurs
M checkpoint-chrosome divided equally into 2 daughter chromosomes or apotosis occurs
What happens during nuclear division?
Each daughter cells receives an equal and equivalent set of chromosomes
What is the distribution of a copy of each chromosome to each daughter cell
Chromosome segregation--occurs in meta/anaphase
What occurs during prophase?
Chromosomes condense, formation of mitotic spindles and centrosomes--produce microtubules that organize the process and grown spindle
What occurs during pro metaphase?
Nuclear membrane falls apart. Allows microtubules to start attaching to chromosomes to pull them apart
During metaphase, the chromosomes undergo
congression and are pulled toward the center
During anaphase, the centromeres
split and chromosomes migrate
During telophase, the nuclei
reform and chromosomes decondense
During cytokinesis, there is
cytoplasmic division, pulls cells apart so we now have 2 daughter cells
The karyotype is used readily to determine structural or numerical abnormalities. They analyze
metaphase (fully condensed pairs with sister chromatids) chromosomes based on size, shape, staining pattern, centromere position.
The centromere separates P(short) arm from Q(long) arm.
During meiosis, diploid cells (maternal and paternal copies of chromosomes) become
haploid gametes-1 round of DNA synthesis--2 nuclear/cytoplasmic divisions
What does meiosis I consist of?
Reduction division and genetic recombination, daughter cells have paternal OR maternal=haploid
Meiosis II is similar to
During prophase I, homologous pairs synapse pairs of sister chromatids join. Tetrads form the chiasmata which is
point of crossing over (aka genetic recombination) swap equivalent portions bt paternal and maternal chrosomes
During metaphase I, what occurs?
Tetrads align across metaphase plate--independent and random
During anaphase I,
homologues separate, tear apart tetrads, maternal goes to one daughter cell, paternal to another
During telophase I,
the nuclear envelope reforms
Cell division maintains chromosome # across generations. What will errors lead to?
Errors in either mechanism will lead to cell lineage with abnormal # of chromosomes. Responsible for spontaneous abortions, developmental defects, failure to thrive, mental retardation
There are about 25,000 genes in the human genome. Does this mean that there is also 25,000 proteins?
No--many more, a single gene can make many different proteins
25000 genes might make 1,000,000 proteins
Genes are capable of generating multiple different proteins, how?
Alternative splicing, biochemical mods
Do individual proteins fxn on their own?
No--don't fxn by themselves. All come together and work in groups to perform diff fxns
Genes are located throughout the genome but do tend to cluster. Some genes organized into families of related genes. Genes on autosomes have how many copies of each
Genes on autosomes have 2 copies of each--both usually expressed to generate product
What is the central dogma of biology?
DNA---> RNA---> Protein
RNA has a similar structure to DNA. What are the differences?
Ribose vs deoxyribose
Uracil vs thymine
Single vs double stranded
Our genetic info is stored as a genetic code. What determines the sequence of amino acids?
Sequence of nucleotides determines sequence of amino acids
DNA is transcribed into mRNA via
mRNA is translated into polypeptide in the
A sequence of DNA that is required for the production of a fxnal product that includes coding & adjacent sequences, which are necessary for expression is known as a
The promoter is located at what end and why is it important?
5' end--required for initiation of transcription. Helps to regular tissue specificity versus housekeeping genes (use certain promoter only for muscle cells etc
The 3' end contains
signal for polyA tail addition
Gene families share closely related
DNA sequences-closely related polypeptides
Pseudogenes are found in gene families but are non-coding due to mutations. There are 2 types, what are they?
Processed=no introns, product of reverse transcriptase
Non-coding RNA genes=no protein product
Transcription initiation is under control of
transcription factors--interact with specific DNA sequences to determine spatial and temporal pattern of expression
Transcription begins where
in 5' UTR- continues thru introns and exons
What begins transcription?
RNA POL II
When the 5' cap and 3' poly A tail modifications occur, introns removed, exons spliced--what forms?
mRNA is transported to the cytoplasm where translation uses the ribosome and tRNA and rRNA to
turn it into fxnal protein product
DNA is read in __ to __ direction. RNA is produced in ___ to ____ direction.
DNA read 3'-5'
RNA produced 5'-3'
What is the coding strand?What is the transcribed strand?
Untranscribed DNA strand. Transcribed strand--non coding (anti-sense) read to produce mRNA
The coding strand is similar to
Primary RNA transcript is modified by
Addition of 5' cap (prokaryotes don't have cap)
Polyadenylation of 3' end (AAUAAA)--adds to stability
All post processing and RNA splicing occurs in
mRNA is transported to
What is required for translation?
What are the site of protein synthesis?
Ribosomes--composed of rRNA(catalytic structure) 60% and protein 40%
The genetic code consists of __ codons.
The genetic code is degenerate which means
Most aa have at least 2 codons specifying them
What is the start codon?
What are the stop codons?
UGA, UAA, UAG
The B-Globin gene is a 146 aa polypeptide from 1.6kb gene. It has 3 eons and 2 introns. The DNA sequences form initiation are ____ bp upstream of start site
200 bp upstream of start site
The promoter is the B-globin gene has short elements which the transcription factors bind to for regulation. What are the 2 only expressed in erythroid cells?
TATA box-25-30 bp upstream
CAT box-upstream from TATA
Mutation in TATA or CAT alters level of transcription
Are TATA and CAT found in all promoters?
No-usually in tissue specific genes
House keeping genes contain ___ ________ as their promoter
B-globin gene also has enhancers--activating sequences several kb from gene
RNA splicing must remove 2 introns from B-globin gene. Its an exact and efficient process guided by
sequences in 3' and 5' ends of introns.
5' end GT
3' end AG
if these are mutated=bad RNA splicing
Alternative splicing is found in many genes--not B-globin. What is this?
Multiple splicing patterns, can create multiple related mRNAs from single gene. Occurs in 1/3 of human genes
Mature mRNA contains 130bp of 3' UTR between stop and polyA tail
Cleavage of 3' end and addition of polyA tail controlled by AAUAAA 20bp upstream of polyA site
Variations in expression are relevant to medicine because all control levels participate in proper regulation of expression. Replication and segregation, gene structure, transcription, RNA splicing, mRNA stability, translation, protein processing, protein degradation. How do changes affect genes?
Changes have little effect on some genes and major effects for others