Exam (elaborations)
PCOL 838 EXAM 1
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- NR 667 VISE
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- NR 667 VISE
Exam of 31 pages for the course NR 667 VISE at NR 667 VISE (PCOL 838 EXAM 1)
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PCOL 838 EXAM 1After there is hepatic injury and infection which two types of hepatitis can it lead to? -
ANS-subclinical hepatitis, and acute hepatitis
Define acrocentric - ANS-A chromosome in which the centromere is located quite near one end
of the chromosome. Humans normally have five pairs of acrocentric chromosomes (13, 14, 15,
21, and 22)
Define allelic heterogeneity - ANS-different mutations at the same locus cause a different
phenotype or severity of the phenotype
Define amorphic mutation - ANS-a mutation that causes complete loss of gene function
Define aneuploidy - ANS-an abnormal number of chromosomes in a cell, for example a human
cell having 45 or 47 chromosomes instead of the usual 46
define antimorphic - ANS-A type of mutation in which the altered gene product possesses an
altered molecular function that acts antagonistically to the wild-type allele
Define anuria, diuresis, oliguria, and polyuria. - ANS-• Anuria: little or no urine
output • Diuresis: increased urine output
• Oliguria: less than normal urine output
• Polyuria: more than normal urine output
define ascertainment bias - ANS-Ascertainment bias arises when data for a study or analysis is
collected (or surveyed, screened, or recorded) such that some members of the intended
population are less likely to be included than others. The resulting study sample becomes
biased, as it is systematically different from the intended population.
define autosomal - ANS-chromosomes 1-22 not including x and y
Define bacteriuria, glycosuria, hematuria,and proteinuria. - ANS-• Bacteriuria: bacteria in the
urine
• Glycosuria: glucose in the urine
• Hematuria: red blood cells in the urine
• Proteinuria: protein in the urine
define CpG island - ANS-a short stretch of DNA in which the frequency of the CG sequence is
higher than other regions
define dictyotene - ANS-the end of prophase during female meiosis I in which fetal oocytes are
arrested prior to ovulation
,define dominant negative - ANS
Describe the renin-angiotensin pathway. What is the main purpose of this path? -
ANS-Renin: released in response to decreased blood volume, low blood pressure, low
sodium, cleaves Angiotensinogen.
Angiotensin I → angiotensin II by angiotensin converting enzyme (ACE) as blood flows through
the lungs
Angiotensin II:
• Vasoconstrictor: raises blood pressure by
causing peripheral arterioles to constrict
• Stimulates aldosterone (adrenal cortex): increases reabsorption of NaCl and H2O
by kidneys
• Stimulating secretion of antidiuretic
hormone (ADH) (pituitary gland):
promotes water reabsorption
• Stimulating thirst: promotes water intake.
• Net effect: higher blood pressure,
increased fluid in vascular system
Describe the sympathetic control of the nephron. - ANS-Sympathetic control overrides
renal autoregulation in times of large systemic blood pressure shifts or during the "fight or
flight" response.
A drop in systemic blood pressure -->afferent glomerular arterioles are constricted -->
decreases glomerular pressure and GFR -->decreases urine formation -->conserves water to
maintain normal blood pressure and volume.
How are renal diseases categorized? - ANS-• by the site of the lesion
• by the nature of the factors that have led to kidney disease
• Nephrotic vs. nephritic disorders
How are type I, III, and IV osteogenesis imperfecta predicted? - ANS-• Type I cause by COL1A1
mutation
Ø Allelic heterogeneity
Ø Linkage analyses may predict the probability of
inheritance.
• Type III and IV cause by COL1A1 or COL1A2 mutation
Ø Locus heterogeneity
Ø More difficult to predict
Ø Genome sequencing may help.
How does a hepatocellular reaction effect cells? what are some drugs that cause this reaction? -
ANS-Direct effect or production by enzyme-drug adduct leads to cell dysfunction, membrane
dysfunction, cytotoxic T-cell response
,Isoniazid, trazodone, diclofenac, nefazodone, venlafaxine, lovastatin
How does aldosterone effect reabsorption in the kidneys? - ANS-Aldosterone (secreted by the
adrenals) stimulates potassium to move from blood vessels into the tubule in exchange for
sodium.
How does blood flow through the glomerulus? - ANS--Blood comes along with its toxins,
glucose, amino acids, water, electrolytes ENTERS KIDNEY VIA RENAL ARTERY -It
then ENTERS AFFARENT ARTERIOLES into the glomerulus.
-The afferent arteriole contains the juxtaglomerular apparatus (causes
renin to be excreted depending on the blood pressure)
-The glomerulus is the FILTER of the system. All water and small particles flow right through,
but larger particles like sugar and protein can't. So WHAT MAKES IT THROUGH IS FILTERED
OUT of the bloodstream AND MOVES INTO BOWMANS CAPSULE and onto the tubular
system
-What doesn't get filtered out continues on out the efferent arteriole, which is smaller than the
afferent vessel in order to maintain a high pressure system for filtration.
How does the endothelium regulate the arterioles? - ANS-• Endothelium secrete growth
regulators and vasoactive substances in response to:
• Flow changes (shear stress)
• Stretch
• Inflammatory mediators
• Circulating substances
• Growth regulators manage vascular development
• Vasoactive substances regulate vascular tone in paracrine fashion
How does the Frank Starling curve shift in heart failure? - ANS-The most common type of
heart failure is systolic dysfunction. With systolic dysfunction, the Frank-Starling curves shifts
down and to the right because of the loss of contractility. Stroke volume can be increased by
increasing inotropy, decreasing the afterload, or increasing the preload
How does the sympathetic (fight or flight) vasomotor system regulate arterioles? - ANS-•
Norepinephrine vasomotor nerves innervating the vessels --> constrict arterioles • If
discharge from these nerves is general, blood pressure increases
• Sympathetic Norepinephrine nerves innervating the heart --> increase the force and rate of
cardiac contraction, increasing SV and CO
• Inotropic and chronotropic effects
• BP increases
• Norepinephrine stimulation also inhibits effect of vagal stimulation that normally slows the heart
and decreases cardiac output
How is a signal terminated? - ANS-Termination of the signal is achieved by removal of the
neurotransmitter from the synaptic cleft. Acetylcholine is hydrolyzed by acetylcholinesterase at
the postsynaptic membrane. Other neurotransmitters such as glutamate are removed by
, specific membrane transporters on nerve terminals or glial cells.
How is blood flow maintained? - ANS-• Body adjusts flow so it is increased in active tissues and
decreased in inactive tissues
• Multiple regulatory mechanisms involved in maintaining blood flow • Altering cardiac output
• Changing diameter of resistance vessels (mainly arterioles)
• Altering amount of blood pooled in capacitance vessels (veins
How is fragile X syndrome different from classical X-linked? - ANS-• 20% of men manifest no
sign --> carrier daughters --> affected childrens (both men and women, more severe in men)
• ~30% carrier female exhibit mild phenotype
How is material filtered through the glomerulus? - ANS-• Material is filtered by a 3-layered
glomerular filter
1.Inner: fenestrated capillary endothelium
2.Middle: basement membrane
3.Outer: capillary endothelial cells (foot processes and filtration slits)
How is the heart able to recover? - ANS-Reduced workload and stretch together with
oxygen/nutrient delivery is essential
● Temporary 'off-loading' can allow for repair
○ Decrease dilation (reduce pre-load with fluid management and decreased myocardial
workload)
■ Mechanical assistance, diuretics, beta-blocker, nitrate (increase venous capacitance),
How much of what is filtered in the glomerulus ends up as urine? - ANS-99% of what the
glomerulus filters is reabsorbed by the tubules. (only 1% ends up as urine)
How often does a mutation cause a disease? - ANS-Overall frequency of disease attributable to
defect in a single gene (a.k.a Mendelian disorder) is ~1%.
-Most mutations are either asymtomatic or embryonic lethal
How would you describe acute coronary syndrome pain? What is it caused by? - ANS-●
Sub-sternal, Crushing, radiating (jaw, left arm, back)
● Derived from lactic acid production due to anaerobic
respiration
● Minimal sensory cardiac innervation
How/when is PKU generally detected? - ANS-Systematic large-scale newborn
screening: • Blood spot 24-72 hours of age (first screen)
• Quantitative measurement of plasma Phenylalanine at
before 2 weeks of age - False negative rate of 1:70
In which part of the brain are all pathological changes the most prominent in regards to
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