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Review / Wrong Answers > 6/20 UWorld > Flashcards

6/20 UWorld Flashcards

1
Q

Describe defect and presentation of Abetalipoproteinemia

A
  • Lack of apoprotein B
    • B48 needed for chylomicron secretion from the intestinal cells
      • Enterocytes fill with chylomicrons that cannot pass into circulation
      • Fat malabsorption, steatorrhea, failure to thrive
      • Night blindness (Vitamin A deficiency)
      • Ataxia
    • B100 needed for LDL reuptake in the liver
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2
Q

Histology and treatment of abetalipoproteinemia

A
  • Will see abnormal star-shaped RBCs called acanthocytes (spur cells)
  • Treatment:
    • Vitamin E – will restore apolipoprotiens
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3
Q

Defect and presentation in familial hypercholesterolemia

A
  • Increased LDL due to defective or absent LDL receptor
  • Presentation:
    • Accelerated atherosclerosis (early MI), tendon xanthomas, corneal areus
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4
Q

Starting substrate and rate limiting enzyme of cholesterol synthesis

A

Starting substrate = acetyl CoA

Rate-limiting step = HMG CoA Reductase (vs. ketogenesis which is HMG CoA synthase)

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5
Q

Where does fatty acid synthesis occur and what is the rate limiting enzyme

A

Occurs in the cytoplasm

Acetyl CoA carboxylase

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6
Q

Location and rate limiting enzyme of Fatty acid degradation

A

Occurs in the mitochondria

Carnitine palmitoyl transferase

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7
Q

Deficiencies in what 2 enzymes can lead to hypoketotic hypoglycemia

A

Carnitine palmitoyl transferase deficiency (cannot transport fatty acids into mitochondria for degradation)

Medium chain acyl-CaO dehydrogenase deficiency (no beta-oxidation = cannot break down fatty acids)

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8
Q

What is the amino acid derivative of serotonin

A

Tryptophan

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9
Q

AA derivative of nitric oxide

A

Arginine

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10
Q

AA derivative of norepinephrine

A

Phenylalanine (to tyrosine)

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11
Q

AA derivated of Niacin

A

Tryptophan (remember Hartnup disease)

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12
Q

What organ does Urea cycle take place in?

A

Liver

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13
Q

Rate limiting enzyme for urea cycle

A

carbamoyl phosphate synthetase I (CPSI)

Found in mitochondria

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14
Q

AA derivative of porphyrin

A

Glycine

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15
Q

Defective enzyme in PKU

A

o Deficiency in phenylalanine hydroxylase, or

o Deficiency in tetrahydrobiopterin cofactor (BH4)

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16
Q

Treament of PKU

A
  • Decreased phenylalanine intake (proteins, aspartame in artificial sweeteners)
  • Increased tyrosine intake (deficient enzyme was supposed to convert phenylalanine to tyrosine)
  • BH4 supplementation
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17
Q

Causes of homocysteinuria

A

o Cystathionine synthase deficiency

o Decreased affinity of cystathionine synthase for B6

o Methionine synthase deficiency

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18
Q

What type of receptor does glucagon use?

A

Gs (not part of FLAT ChAMP though)

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19
Q

Cause and presentation of Hartnup disease

A

o Autosomal recessive deficiency of neutral amino acid transporters

o Leads to decreased absorption of tryptophan, which is the source of niacin (B3)

o Can lead to pellagra-like symptoms

o Treat with high-protein diet and nicotinic acid

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20
Q

What vitamin (deficiency or toxicity) is associated with pseudotumor cerebri (idiopathic ICP)

A

Vitamin A toxicity

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21
Q

Function of Vitamin E

A

Antioxidant - protects RBC from free radical damage

22
Q

Describe the 3 major diseases caused by thiamine deficiency

A

Thiamine = B1

  • Wernicke-Korsakoff syndrome
    • Triad: confusion, ophthalmoplegia, ataxia
    • Confabulation, personality change, memory loss (permanent)
  • Beriberi = THINK: Ber1Ber1 to remember B1
    • Dry beriberi
      • THINK: nerves
      • Polyneuritis, symmetrical muscle wasting
    • Wet beriberi
      • THINK: heart
      • High-output cardiac failure (dilated cardiomyopathy), edema
23
Q

What vitamin deficiency will cause corneal vascularization

A

B2 Riboflavin

THINK: things are flavorful when you get high (red eyes)

24
Q

Function of Pyridoxine

A

Vitamin B6

  • Converted to pyridoxal phosphate (PLP) and used as a cofactor for transamination (e.g. ALT and AST)
  • Needed for synthesis of cystathionine, heme, niacin (B3), histamine, NTs (serotonin, epinephrine, norepinephrine, dopamine, GABA)
25
Presentation of Vitamin B6 deficiency
Convulsions, hyperirritability, peripheral neuropathy Due to GABA deficiency
26
With what drug should Vitamin B6 be co-administered
Isoniazid
27
What type of reactions is Vitamin B7 necessary for
Cofactor for carboxylase reactions: o Pyruvate to oxaloacetate (gluconeogenesis) o Acetyl CoA to malonyl CoA (fatty acid synthesis) o Propionyl-CoA to methylmalonyl CoA (fatty acid oxidation)
28
How do you determine the probability of a child being affected by an autosomal recessive disorder if you don't know the genotype of one of the parents, but are given the allele frequency in the population
§ P(affected child) = ¼ § P(carrier mother) = usually given that the mother is a carrier = 1 § P(carrier father) = use Hardy-Weinberg
29
PAH is used to estimate what renal value?
Renal plasma flow
30
What are the bones of the wrist
* Wrist bones = So Long To Pinky, Here Comes The Thumb * Scaphoid, Lunate, Triquetrum, Pisiform, Hamate, Capitate, Trapezoid, Trapezium
31
Differentiate type I from type 2 muscle fibers
* Type 1: * Slow twitch * Red fibers due to increased mitochondria and myoglobin concentration à increased oxidative phosphorylation à sustained contraction * Muscle involving low-level sustained force (e.g. postural maintenance) * Proportion increases after endurance training * THINK: One slow red ox * Type 2: * Fast twitch * White fibers due to decreased mitochondria and myoglobin concentration à increased anaerobic glycolysis * Muscle involved in rapid forceful pulses (e.g. biceps) * Proportion increases after weight/resistance training
32
What is the cause and presentation of Osgood-Schlatter disease (OSD)
Due to repetitive quadricep contraction (e.g. jumping) * Quadricep attached to proximal/superior patella * Patellar tenden is attached to distal/inferior patella and inserts at the tibial tuberositiy * Reptitive quad contraction (leg extension) causes the proximal patellar tendon to separate from the tibial tubercle, leading to focal pain and swelling at the tibial tuberosity
33
Dynein vs. Kinesin
§ Dynein: * · Transports from (+) to (-) end of microtubule * · Retrograde transport towards the nucleus * o THINK: Negative end Near Nucleus * · Defective in Kartagener syndrome § Kinesin: * · Transports from (-) to (+) end of microtubule * · Anterograde transport away from nucleus * o THINK: Positive end Points to Periphery
34
What is the antibody specific for rheumatoid arthritis (not RF)
Anti-CCP (anti-cyclic citrullinated peptide) antibodies
35
Major effect of second hand smoke on children (pre- and post-natal)
SIDS
36
Effects of opioid toxicity on BP and HR
Bradycardia and hypotension
37
Is Gardnerella vaginalis aerobic/anaerobic gram+/-
Anaerobic gram-variable rod
38
MOA of DKA
No insulin so no glucose in cells Cells undergo ketogenesis for energy since there is no glucose
39
Possible hormones secreted by small cell lung cancer
* ADH = SIADH * ACTH = Cushing’s * Antibodies against pre-synaptic Ca2+ channels = Lambert-Eaton
40
Possible hormones secreted by squamous cell carcinoma of the lung
PTH = hypercalcemia
41
Describe bronchoalveolar pneumonia (XR and histology)
* Subtype of adenocarcinoma * X-ray shows hazy infiltrates similar to pneumonia * Columnar cells grow along pre-existing alveolar septa = apparent “thickening” of alveolar walls
42
Risk factors associated with mesothelioma
* Malignancy of pleura * Associated with asbestos * No associated with smoking * Psammoma bodies
43
Most common locations for lung cancer to mestastasize to
* Adrenals, brain, bone, liver
44
What will you see on CXR in the 3 types of pnuemonia: Lobar Bronchopneumonia Interstitial
Lobar = consolidation of an entire lobe Broncho = scattered, patchy consolidation centered around bronchioles Interstitial = diffuse infiltrate with increaed lung markings
45
Differentiate between transudative and exudative pleural effusion
* (1) Transudate * Low protein content * THINK: **_Trans_**udate is more **_trans_**parent * Due to increased hydrostatic pressure (e.g. CHF or fluid overload) or decreased oncotic pressure (e.g. cirrhosis, nephrotic syndrome) * (2) Exudate * High protein content, cloudy * Due to malignancy, pneumonia, trauma, connective tissue disease * Must be drained due to risk of infection
46
Content and caue of lymphatic pleural effusion
* Aka “chylothorax” – milky fluid high in triglycerides * Due to thoracic duct rupture or occlusion
47
What is and isn't drained by the thoracic duct
R lymphatic duct drains R side of the body above the diaphragm Thoracic duct drains everything else into the junction of the L subclavian and internal jugular vein
48
What part of the bone (diaphysis, metaphysis, or epiphysis), do the following tumors occur: * Osteochondroma * Giant cell tumr * Osteosarcoma * Ewing sarcoma
* Diaphysis: * Osteoid osteoma * Ewing sarcoma * Metaphysis: * Osteosarcoma * Osteochondroma * Epiphysis: * Giant cell tumor
49
What translocation is associated with Ewing sarcoma
t(11;22) THINK: 11 + 22 = 33 (Ewing's jersey number) * Ewing Sarcoma * Malignant proliferation of poorly differentiated cells derived from neuroectoderm * Arises in the diaphysis of long bones * Biopsy reveals small round blue cells resembling lymphocytes * XR = onion skin
50
Describe defect and cause of osteopetrosis
* Disorder of bone resorption (osteoclasts) = dense, thickened bones that fracture easily * Often due to mutation in carbonic anhydrase II = cannot create acidic environment necessary for bone resorption

Review / Wrong Answers (140 decks)

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