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Describe X-linked dominant inheritance.
- Affected father will transmitt all to daughters but no sons.
- Mothers transmit 50% to daughters and sons
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In this mode of inheritance, both parents must at least be carriers (heteroyzgous) for the trait in order to produce the affected offspring.
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What is the condition below?
Dextrocardia
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What is the cause of change depicted by the dashed line?
- Anaphylaxis
- Causes widespread venous and arteriolar dilation along with increased capillary permeability →⇩venous return
- Cardiac contractility also increase as the body attempts to maintain blood pressure.
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What is the cause of change depicted by the dashed line?
- Myocardial infarction
- Decrease in cardiac output due to loss of contractility
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What is the cause of change depicted by the dashed line?
- Excessive hydration
- ⇧in blood volume
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What is the cause of change depicted by the dashed line?
Hemorrage
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What is the cause of change depicted by the dashed line?
- Chronic anemia- increases cardiac output to meet metabolic demands of the tissues.
- ⇧ venous return occurs due to ⇩blood viscosity.
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What corresponds to the opening snap in mitral stenosis?
C- opening snap- mitral stenosis
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What is the pathology below?
Pituitary macroadenoma
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How does hemolytic disease of the newborn occur?
Rh- mothers exposed to fetal Rh+ blood (often during delivery) may make anti-Rh(D) IgG antibodies which can cross the placenta and cause fetal hemolysis in the next fetus that is Rh+
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What is the pathology below and what causes it?
- Caput medusae
- Distended paraumbilical veins
- Paraumbilical ↔ small epigastric veins of the anterior abdominal wall
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The following measurements were taken from a healthy 33-year old volunteer.
Which of the following is the best estimate of the filtration fraction in this patient assuming a urine flow of 1.0 ml/min?
- FF= GFR/ RPF
- FF= [(Crurine X Crserum)/ Urine flow] / [(PAHurine X PAHserum) / Urine flow]
- FF= [(200 X 0.1) / 2] / [(100 X 1.0) / 0.2] = 100/500 = 0.2 = 20%
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What is a typical filtration rate for a normal individual?
20% or 0.20
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What causes calcium efflux prior to myocyte relaxation?
Ca2+-ATPase and Na+/Ca2+ exchange mechanisms
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Label the diagram
- 1 = prostate
- 2 = rectum3 = obturator internus4 = ischium5 = body of pubis6.= pubic symphysis7 = femoral artery8 = femoral vein
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Which drugs have negative chronotropic effects → ⇩heart rate?
- β-blockers (metotrolol, atenolol)
- Ca2+ channel blockers- verapamil, diltiazem
- Digoxin
- Amiodarone and Soltalol (class III antiarrythmics)
- Cholinergic agonists (Pilocarpine, rivastigmine)
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A young couple who recently immigrated from Eastern Europe brings their 3-year old son to your office for evaluation of an eczematous rash. On exam, you observe that the child shows signs of mental retardation and has a mousey odor. What is the likelihood that his couple's next child will be affected with the same disease?
- Phenylketonuria - autosomal recessive
- p1= probability that the mother transmits the mutant allele = 1/2
- p2= probability that the father transmits the mutant allele = 1/2
- The probability that a child will inherit a mutant allele from each carrier= p1 X p2 = 1/4
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Which enzymes are required by branched-chain α-ketoacid dehydrogenase?
- 1. Thiamine pyrophosphate
- 2. Lipoate
- 3. Coenzyme A
- 4. FAD
- 5. NAD
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How do we treat maple syrup urine disease?
- Restriction of isoleucine, leucine, valine in diet
- THIAMINE SUPPLEMENTATION
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In which disease is Galactocerebrosidase deficient?
Krabbe disease
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What is pleiotropy? Give an example.
- One gene contributes to multiple phenotypic effects.
- E.g Phenylketonuria
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Patient receives a transplant. About a week after his surgery the patient develops skin rash and bloody diarrhea. What is the cause of this condition? Explain the pathology.
- Graft vs host disease
- Graft T-cell sensitization against host MHC antigens
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What is the pathology below?
Meningioma
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This tumor of the brain arises from arachnoid villi.
Meningioma
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Where do meningiomas arise from?
Arachnoid villi
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This brain tumor is characteristic of concentric laminated calcifications.
- Meningioma
- Psammoma bodies
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Psammoma bodies are characteristic of this brain tumor.
- Meningioma
- Laminated calcifications
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Where are meningiomas most commonly located?
- Most occurs in the CONVEXIVITIES OF HEMISPHERES and PARASAGGITAL REGION
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This brain tumor often occurs in the convexity of the hemispheres.
Meningioma
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This brain tumor often occurs in the parasaggital region of the brain
Meningioma
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What symptoms can arise from a meningioma?
- SEIZURES or focal neurologic signs
- Compression of parasaggital cortex causes contralateral SPASTIC PARALYSIS OF THE LEG
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Describe this pathology. What causes it?
- Ptosis & "Down and out" gaze
- Caused by a lesion to CN3
- Compression- berry aneurysm, uncal herniation
- Ischemia- Diabetes mellitus
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What caution should be placed with taking other diuretics with ACE inhibitors. Why?
- First dose hypertension is an adverse effect when initiating ACE inhibitors.
- Risk factors: hyponatremia and hypovolemia 2o to diuretic therapy- Thiazides, Loop diuretics
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Which HIV gene produces capsid protein p24?
gag
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What does the HIV gag gene encode?
Nucleocapsid proteins p24 and p7
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This HIV gene encodes p7.
gag
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What does the HIV pol gene encode?
- Reverse transcriptase
- Integrase
- Protease
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What does the HIV env gene encode?
gp160, a precursor glycoprotein that is cleaved into viron envelope glycoproteins gp120 and gp41
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This HIV gene encodes gp120.
env
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This HIV gene encodes gp41
env
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This HIV gene enhances viral replication through downregulation of CD4 and MHC class I expression
nef
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What is the funciton of the nef gene?
Enhance viral replication through downregulation of CD4 and MHC class I expression
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Which HIV genes are required for viral replication?
tat and rev
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What does the HIV tat gene encode?
- Encodes a protein that transcriptionally activates other viral genes.
- Expression of this gene is throught to contribute to the virulence of HIV
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Where is the lunate bone located?
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Where is the trapezium bone located?
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Where is the trapeziod bone located?
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Describe the findings of organophosphate poisoning.
- Diarrhea
- Urination
- Miosis
- Bronchospasm
- Bradycadia
- Excitation of skeletal muscles and CNS
- Lacrimation
- Sweating
- Salivation
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How do we treat organophosphate poisoning?
Atropine + Pralidoxine (regenerates AChE)
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What is the MOA of Trifoban?
- Prevents platelet-platelet aggregation
- Inhibits expression of GpIIb/IIIa
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What is the MOA of Eptifibatide?
- Inhibits expression of GpIIb/IIIa
- Prevents platelet to platelet aggregation
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Describe the pathogenesis of Syringomyelia.
- Cystic dilation in the cervical spinal cord (a syrinx) slowly enlarges.
- Causing damage to the VENTRAL WHITE COMISSUE (which the SPINOTHALAMIC TRACT runs through) and the ANTERIOR HORNS (which is the sire of lower motor neuron cell bodies)
- Loss of temperature and pain sensation (e.g ppt keeps burning arms) and lower extremity weakness
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Describe the presentation of syringomyelia
- Loss of upper extremity pain and temperature- e.g. person keeps burning/ bruising their hands
- Hyporreflexia, lower extremity weakness
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How do we calculate cardiac output?
- CO = Stroke volume X Heart rate
- = rate of O2 consumption/ (arterial O2 content- venous O2 content)
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