UWorld Exam 2 Section 1, 2, 3 Flashcards

1
Q

What is the most common cause of mitral stenosis?

A

Chronic rheumatic fever

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2
Q

What type of HSR is rheumatic fever?

A

Type II HSR

Antibodies to M protein cross-react with self antigen

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3
Q

What is anisocoria

A

unequal pupil size

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4
Q

What nerve/ganglion is affected in a Pancoast tumor in order to cause Horner syndrome?

A

Cervical ganglion

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5
Q

What is the cause of S3 heart sound?

A

Rapid flow of blood from atria to ventricles

Occurs with volume overload (e.g. CHF, mitral or tricuspid regurg)

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6
Q

What is the cause of S4 heart sound

A

Atrial contraction against a stiff ventricle (e.g. hypertrophic cardiomyopathy)

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7
Q

What is the genetic defect and associated cancers of Lynch syndrome

A

Mutation in mismatch gene repair

Cancers: colorectal, endometrial, ovarian

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8
Q

What is the defect and associated triad in Ataxia telangiectasia?

A

Defect in ATM gene - failure to repair DNA double strand breaks

Triad: ataxia, telangiectasia, IgA deficiency

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9
Q

What are some drugs that inhibit calcineurin

(Names, MOA, uses, toxicity)

A
  • Cyclosporine
    • Immunosuppressant
      • Blocks lymphocyte activation and proliferation
    • MOA:
      • Binds cyclophilin (protein within cytosol of T-cells)
      • Inhibits calcineurin (which stimulates IL-2) à prevention of IL-2 transcription
    • Uses:
      • Transplant rejection
      • Psoriasis
      • Rheumatoid arthritis
    • Toxicity
      • Nephrotoxicity
  • Tacrolimus
    • Immunosuppressant
      • Blocks lymphocyte activation and proliferation
    • MOA:
      • Binds FK506 binding protein
      • Inhibits calcineurin à prevention of IL-2 transcription
    • Uses:
      • Transplant rejection prophylaxis
    • Toxicity:
      • Nephrotoxicity
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10
Q

What are the complications associated with alkaptonuria

A

o Blueish-black connective tissue (e.g. ear cartilage) and sclera

o Black urine upon prolonged exposure to air

o Debilitating arthralgias

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11
Q

What is the difference in lens subluxation between Marfan’s and homocystinuria

A

Marfan - upward

Homocysteinuria - down and in

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12
Q

Compare and contrast presentation of Marfan vs. Homocystinuria

A

o Marfan:

§ Marfanoid habitus (pectus deformity, tall stature, arachnodactyly, joint hyperlaxity, skin hyperelasticity, scoliosis)

§ Normal intellect

§ Aortic root dilation

§ Upward lens dislocation

o Homocystinuria:

§ Marfanoid habitus

§ Intellectual disability

§ Thrombosis

§ Downward lens dislocation

§ Megaloblastic anemia

§ Fair complexion

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13
Q

Are water-soluble or lipid-soluble molecules more likely to cross the placenta

A

Lipid soluble

So it is safer to give water-soluble drugs during pregnancy

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14
Q

Describe the pathophysiology of exophthalmos in Graves disease

A
  • Lymphocytes infiltrate the orbital tissues and secrete cytokines that stimulate fibroblasts to secrete increasing amounts of glycosaminoglycan ground substance such as hyaluronic acid. This increased hyaluronic acid draws water into the orbit resulting in extraocular muscle edema. Combined with interstitial edema, this process pushes the globe outward (proptosis). A sensation of grittiness and excessive tearing occur because the lids are now unable to completely cover the proptotic globe. Desiccation and keratitis may result
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15
Q

Describe jugular venous tracing graph

A
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16
Q

What are the names of some high potency first generation antipsychotics

A

Haloperidol

Fluphenazine

Trifluoperazine

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17
Q

What are the names of some low potency first generation antipsychotics?

A

Thioridazine

Chlorpromazine

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18
Q

Describe the control of lac operon expression

A
  • Lac operon controls the expression of beta-galactosidase (necessary for lactose metabolism) in order to ensure that glucose is used preferentially over lactose
  • CAP is the transcription factor that determines if the gene is transcribed or not
    • When glucose is low, CAP will be activated and there will be increased transcription
  • Repressor proteins are present (and block binding of RNA polymerase and initiation of transcription) unless lactose is high
    • When lactose is high, repressor protein will unbind from the operator site, and transcription will be increased
  • So ideal transcription occurs when there is low glucose (à increased CAP) and high lactose (à decreased repressor protein)
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19
Q

What is the most important risk factor for thyroid malignancy?

A

Radiation exposure

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20
Q

MOA of Cyclosporine

A
  • Immunosuppressant
    • Blocks lymphocyte activation and proliferation
  • MOA:
    • Binds cyclophilin (protein within cytosol of T-cells)
    • Inhibits calcineurin (which stimulates IL-2) à prevention of IL-2 transcription
  • Uses:
    • Transplant rejection
    • Psoriasis
    • Rheumatoid arthritis
  • Toxicity
    • Nephrotoxicity
21
Q

MOA of Tacrolimus

A
  • Immunosuppressant
    • Blocks lymphocyte activation and proliferation
  • MOA:
    • Binds FK506 binding protein
    • Inhibits calcineurin à prevention of IL-2 transcription
  • Uses:
    • Transplant rejection prophylaxis
  • Toxicity:
    • Nephrotoxicity
22
Q

MOA of Sirolumus

A
  • Sirolumus (aka Rapamycin)
    • Immunosuppressant
      • Blocks lymphocyte activation and proliferation
    • MOA:
      • Binds FKBp12 - inhibition of mTOR
      • Prevents response to IL-2
23
Q

What is the cause of extrapyramidal side effects of antipsychotics?

A

Prolonged exposure to dopamine-blocking agents causes upregulation of dopamine receptors

24
Q

What will be the effect/presentation of dopamine beta-hydroxylase deficiency?

A

· Impaired synthesis of norepinephrine and epinephrine leading to impaired sympathetic adrenergic activity

· May present with hypotension, exercise intolerance, nasal congestion, and ejaculatory difficulties

25
Q

Which lung volume will be increased in COPD?

A

Residual volume (RV)

26
Q

What are Negri bodies?

A

Eosinophilic cytoplasmic inclusions in the hippocampal neurons in patients with Rabies infection

27
Q

What is the formula for GFR

A

GFR = Renal plasma flow (RPF) x filtration fraction (FF)

28
Q

How is GFR maintained in the presence of decreased renal blood flow

A

Efferent arteriole will constrict, causing an increase in filtration fraction

Remember that GFR = Renal plasma flow x filtration fraction

So if there is decreased RPF, GFR can remain constant if you increase FF

29
Q

Difference in the shunting of blood in Tetralogy of Fallot vs. VSD

A

VSD - shunt is L to R due to increase pressure in L heart - will not show cyanosis

ToF - shunt is R to L in VSD due to pulmonary stenosis - will see cyanosis; kids squat in order to increase peripheral vascular resistance, and thus decrease the shunt

30
Q

What is xeroderma pigmentosum?

A
  • Autosomal recessive defect in enzymes required for nucleotide excision repair - inability to repair pyrimidine dimers caused by UV rays
  • Presentation: photosensitivity, increased pigmentation, xerosis (abnormal skin dryness)
  • Increased risk of skin cancer
31
Q

What is the defective DNA mechanism in Hereditary nonpolyposis colorectal cancer (HNPCC)

A

Defect in DNA mismatch repair (MMR)

32
Q

What is the pathogenesis of spider angiomatas in liver failure?

A

Hyperestrogenemia

Hyperestrogenemia in cirrhosis occurs due to decreased metabolism of estrogen by failing liver, decreased produciton of sex hormone binding globulin, and decreased metabolism of androgens (which are converted peripherally into estrogens)

Hyperestrogenemia causes spider angiomas, palmar erythema, gynecomastia, testicular atrophy, and decreased body hair

33
Q

Presentation of Neurofibromatosis type 1 vs type 2

A
  • Neurofibromatosis type 1
    • Caused by mutation in NF1 gene on chromosome 17
      • This gene is responsible for control of cell division
    • Neurocutaneous disorder characterized by café-au-lait spots, cutaneous neurofibromas, optic gliomas, pheochromocytomas, Lisch nodules (pigmented iris hamartomas)
    • Neurofibromas consist of proliferation of Schwann cells, fibroblasts, and neurites
  • Neurofibromatosis type 2
    • Due to mutation of NF2 gene on chromosome 22
    • Bilateral acoustic schwannomas, juvenile cataracts, meningiomas, and ependymomas
    • Presentation:
      • Hearing loss, tinnitus, balance problems, hyperpigmented skin lesions, cataracts
    • REMEMBER 2’s:
      • Chr 22
      • Bilateral hearing loss
      • NF Type 2
      • Cataracts
34
Q

Lab values of premature ovarian failure (estrogen, LH, FSH

A
  • Premature atresia of ovarian follicles in women of reproductive age
  • Patients present with signs of menopause before the ago of 40
  • Low estrogen, High LH, high FSH
35
Q

What is the MOA of the drug Paclitaxel

A

Hyperstabilization of polymerized microtubules in M phase so that mitotic spindle cannot break down and anaphase cannot occur

Used to treat ovarian and breast carcinoma

Also prevents intimal hyperplasia, so can be used as coating in stent placement to prevent stent restenosis

36
Q

Describe the necessary substrates for formation of collagen triple helix

A

o Triple helix formation made of 3 polypeptide pro-alpha chains held together by hydrogen bonds

o The triply helix occurs because each alpha chain has a simple, repetitive amino acid sequence (Gly-X-Y) with glycine occupying every third amino acid position, and its small size allowing for compact coiling of the helix

§ X and Y often represent proline residues

o In the RER, many of the proline and lysine residues at the Y position are hydroxylated by prolyl hydroxylase and lysyl hydroxlase with Vitamin C as a cofactor

o Hydrogen bonding between hydroxyproline residues further stabilizes the triple helix

37
Q

Differentiate somatic symptoms disorder vs. Illness anxiety disorder

A

Somatic symptom disorder - excessive concern about somatic symptoms, frequent use of medical services, and impaired functioning

Illness anxiety disorder - prolonger fear or concern about getting or having a disease with minimal or no actual physical symptoms

38
Q

Differentiate between osteoarthritis and rheumatoid arthritis (pathogenesis, presentation, joint findings)

A
  • Osteoarthritis
    • Pathogenesis:
      • Wear and tear destruction of articular cartilage
    • Predisposing factors:
      • Age, female, obesity, trauma
    • Presentation:
      • Pain worsens with use
      • Mostly affects weight-bearing joints (hips, lumbar spine, knees), PIP and DIP
      • Asymmetric joint involvement
    • Joint findings:
      • Osteophytes (bone spurs)
      • Joint space narrowing / eburnation (polishing of bone)
      • Non-inflammatory synovial fluid (WBC < 2000)
      • Heberden nodes à DIP
      • Bouchard nodes à PIP
    • Treatment:
      • Acetaminophen, NSAIDs, intra-articular glucocorticoids
  • Rheumatoid arthritis:
    • Pathogenesis:
      • Autoimmune disease causes synovitis which leads to the creation of pannus
      • Leads to destruction of cartilage and fusion (ankyloses) of joints
    • Predisposing factors:
      • HLA-DR4, female, smoking, rheumatoid factors (IgM against Fc portion of IgG)
    • Presentation:
      • Pain gets better throughout the day
      • Affects PIP, wrist radial deviation, elbows, ankles knees
        • Sparing of DIP
      • Symmetric joint involvement
      • Systemic symptoms
      • Rheumatoid nodules
      • Baker cysts (swelling of bursa behind knees)
    • Joint findings:
      • Joint space narrowing
      • Inflammatory synovial fluid (WBC > 2000)
      • Subluxation, ulnar deviation
      • Swan neck (DIP flexion with PIP hyperextension)
    • Treatment:
      • NSADs, glucocorticoids
39
Q

What are the diseases associated with VHL?

A
  • Hemangioblastoma
  • Angiomatosis
  • Bilateral renal cell carcinoma
  • Pheochromocytoma
40
Q

Describe the O2-Hb dissociation curve of fetal hemoglobin

A
  • HbF has a lower affinity for 2,3-BPG which causes a left shift in the O2-Hb dissociation curve (tighter binding to O2)
41
Q

In what part of the eye will you see Kayser-Fleisher rings?

A

Copper deposition within the cornea

  • Occurs in Wilson’s disease
    • Autosomal recessive defect in ATP-mediated hepatocyte copper transport, which leads to lack of copper transport into bile and lack of incorporation into ceruloplasmin (copper transport protein)
42
Q

What are the causes of R shift of O2-Hb dissociation curve

A
  • Shifts to the R (lower binding affinity – unloading of O2) – think of muscles working hard
    • Increased pCO2
    • Decreased pH (due to increased CO2)
    • Increased temperature
    • Increased 2,3-DPG
      • This is a byproduct of glycolysis, which increases under hypoxic conditions
      • 2,3-DPG will bind to beta chains and reduce their affinity for O2
43
Q

Describe the defect in medium-chain acyl CoA dehydrogenase deficiency (MCAD)

A
  • Deficient enzyme for beta-oxidation -> decreased ability to breakdown fatty acids into acetyl-CoA -> accumulation of fatty acyl carnitines in blood with hypoketotic hypoglycemia
  • Presentation:
    • Vomiting, lethargy, seizures, coma, liver dysfunction
    • Can lead to sudden death in infants or children
  • Treatment:
    • Avoid fasting
44
Q

What are the adult derivatives of the prosencephalon, mesencephalon, and rhombencephalon?

A
  • Prosencephalon - forebrain
    • Telencephalon
      • Walls - cerebral hemisphere
      • Cavities - lateral ventricles
    • Diencephalon
      • Walls - thalamus, hypothalamus
      • Cavities - third ventricle
  • Mesencephalon - midbrain
    • Mesencephalon
      • Walls - midbrain
      • Cavity - aqueduct
  • Rhombencephalon - hindbrain
    • Metencephalon
      • Walls - pons, cerebellum
      • Cavity - upper 4th ventricle
    • Myelencephalon
      • Walls - medulla
      • Caity - lower 4th ventricle
45
Q

What cardiomyopathy is associated with chronic, excessive alcohol intake?

A

Dilated cardiomyopathy

46
Q

What marker can be used to differentiation partial from complete mole

A
  • p57 protein is a product of paternally imprinted by maternally expressed gene
    • Complete mole will be p57 negative (no maternal input)
    • Partial mole will be p57 positive
47
Q

What structures exit the 3 different opening of the diaphragm?

A
  • Vena caval formamen (caval opening) – contains IVC
  • Aortic hiatus – contains aorta thoracic duct, azygos vein
  • Esophageal hiatus – contains esophagus and anterior and posterior trunks of the vagus nerve
48
Q

Describe hormone levels in Klinefelter syndrome (testosterone, estrogen, LH, FSH)

A
  • Atrophied/hyalinized seminiferous tubules -> decreased testosterone and inhibin B -> increased FSH and LH -> increased estrogen production