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Clinical Correlation > Block 1 -clinical correlations- Q&A > Flashcards

Block 1 -clinical correlations- Q&A Flashcards

1
Q

Will a patient breathe faster or slower if she has diabetic ketoacidosis?

A

faster to “blow off” CO2

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2
Q

What ion will be lost in the urine with excess protein intake?

A

Ca2+, can lead to osteoporosis

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3
Q

A swollen abdomen, reddish hair, and depigmented skin indicate what deficiency?

A

protein (Kwashiorkor)

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4
Q

Inadequate calories in excess of inadequate protein intake is what condition?

A

Marasmus

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5
Q

Stress of critical illness leads to hyper or hypometabolism?

A

hypermetabolism, sick pt is catabolic

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6
Q

Does administering cardiac glycosides (ouabain, digitalis) help/hurt a patient with cardiac arrest?

A

helps; inhibit Na/K pump by binding K binding site, depolarize cells, alleviate heart attack

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7
Q

What is furosemide’s effect on the Na, K, Cl cotransporter? How will this affect urine output?

A

inhibition, less water is reabsorbed so more goes out in urine (diuresis)

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8
Q

Epidermolysis bullosa simplex is a mutation in what gene, and what are the symptoms?

A

keratin, epidermal cell blistering under pressure

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9
Q

What disease is caused by deficiency of enzyme responsible for phosporylating mannose residues to M6P in Golgi? What are the clinical manifestations?

A

Inclusion-cell (I-cell) disease or mucolipodosis II (ML II); coarse facial features, skeletal abnormalities and mental retardation. lysosomal storage disease–> accumulation of mucolipids and mucopolysaccharides within cells

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10
Q

What are two “prototype” lysosomal storage diseases?

A

I-cell disease, Tay-Sachs disease

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11
Q

A child presents with mental retardation, blindness, and excess gangliosides in the brain -likely diagnosis?

A

Tay-Sachs disease (missing Hexosaminidase A)

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12
Q

A patient is blind and has a mutation in NADH dehydrogenase in the inner mitochondrial membrane - likely diagnosis?

A

Leber’s Hereditary Optic Neuropathy (maternally inherited). mutation in NADH dehydrogenase–>blocks ETC–>ATP production blocked–>nerve degeneration

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13
Q

A pt has high levels of iron and copper in his blood, and there appears to be import malfunctions in his peroxisomes -likely diagnosis?

A

Zellweger’s Syndrome (accumulation of toxins, hepatomegaly, fatal in infancy)

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14
Q

Accumulation of long chain fatty acids in the brain (destroying myelin) and in adrenal glands (deficiency of adrenal steroid hormones) is a disorder of which organelle?

A

Peroxisomes (neonatal adrenoleukodystrophy)

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15
Q

One form of Charcot-Marie-Tooth (CMT) neuropathy involves mutation of what motor molecule and what are the consequences?

A

mutated kinesin in axons => axonal degeneration

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16
Q

What condition results from defects in kinesin affecting transport in retinal cells?

A

retinitis pigmentosa

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17
Q

Mutations in myosin-VI causes what condition in mammals?

A

deafness

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18
Q

The anesthetic lidocaine inhibits what motor molecule in axons?

A

kinesin - stops forward transport of NT to synapses

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19
Q

The herpes virus uses which motor molecule to move along microtubules?

A

kinesin

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20
Q

Name two diseases that involve mutation in kinesin molecules.

A

CMT neuropathy, retinitis pigmentosa

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21
Q

Humans lacking (inner and outer) dynein arms have _________. What are the symptoms?

A

Immotile Cilia Syndrome; They cannot clear mucus with inhaled
particles from their respiratory epithelia, and they have recurrent lung infections. Men with this are infertile.

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22
Q

Polymerization of which cytoskeletal component propels the bacterium Listeria?

A

Actin polymerization extending leading edge of cells

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23
Q

Colchicine, vinblastine, and vincristine bind to ________________ and what is the result?

A

tubulin dimers, dissasembly w/o assembly so microtubules shorten, inhibit mitosis

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24
Q

Taxol binds to ____________ and what is the result?

A

microtubules, assembly w/o dissasembly so excessive microtubules, inhibit mitosis

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25
Q

Vinblastine, vincristine, and taxol are used to treat _______ by inhibiting ________.

A

cancer; mitosis

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26
Q

What are four intermediate-filament related disorders?

A

Amyotrophic Lateral Sclerosis (ALS), desmin-related myopathy, epidermolysis bullosa simplex, progeria

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27
Q

What cytoskeletal component is abnormal in Amyotrophic Lateral Sclerosis (ALS)? What does this cause?

A

abnormal neurofilaments (intermediate filament), damage axonal structure

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28
Q

A patient’s intermediate filaments are too weak, causing muscle fibers to become disorganized. Possible diagnosis?

A

desmin-related myopathy

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29
Q

What condition is caused by mutations to the proteins of the nuclear lamina?

A

progeria (premature aging in children)

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30
Q

A patient exhibits swelling, redness, and itching on skin and eventually goes into anaphylactic shock. What connective tissue cell caused this reaction?

A

degranulation of mast cells

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31
Q

Marfan syndrome is a genetic disease due to mutation of which gene? What connective tissue component is involved?

A

fibrillin gene, abnormal elastic fibers (tall, long limbs, aortic aneurysms, dislocation of lens of the eye)

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32
Q

You want to measure bone age in a young patient; what part of the body do you take an x-ray of?

A

hand/wrist - observe ossification of carpal bones and appearance of phalangeal epiphyses

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33
Q

Blood calcium and phosphate levels are direct/indirect markers of bone metabolism?

A

indirect

34
Q

Serum alkaline phosphatase and serum osteocalcin are products of which cell?

A

osteoblasst products (markers of bone formation)

35
Q

Urinary collagen telopeptides and urinary hydroxyproline (from collagen) are markers of bone formation/resorption

A

resorption (osteoid break-down products)

36
Q

What hormone activates osteoclasts indirectly through secretion of soluble factors form osteoblasts?

A

Parathyroid Hormone (PTH)

37
Q

What hormone activates osteoblasts and inhibits osteoclasts, and is required for growth plate maturation?

A

Estrogen

38
Q

What axis stimulates proliferation of growth plate chondrocytes and production of matrix?

A

GH/IGF-I Axis

39
Q

What vitamin is involved in calcium absorption and bone remodeling?

A

Vitamin D

40
Q

What hormone reduces serum calcium in part by inhibiting osteoclast activity?

A

Calcitonin

41
Q

Achondroplasia is an autosomal dominant growth disorder resulting from a defect in what gene?

A

FGFR3 (Fibroblast Growth Factor Receptor 3 gene) - abnormal growth plates

42
Q

Both gigantism and acromegaly are disorders resulting from excess growth hormone. What is the difference between the two?

A

Gigantism-before growth plates have fused; Acromegaly-after (pt can be of normal height, but coarse joints/facial features)

43
Q

Both osteomalacia and rickets involve “soft” bones due to poor mineralization of newly formed osteoid; what is the difference between the two?

A

Rickets is osteomalacia of growing bones (leads to bowing of the legs)

44
Q

What are 5 risk factors for secondary osteoperosis (any age) in men and women?

A

estrogen deficiency (in women), extensive use of glucocorticoids, alcoholism, smoking, sedentary lifestyle

45
Q

Low BMD (Bone Mineral Density) due to imbalance of bone formation and resoprtion is called what?

A

osteoperosis

46
Q

If you want to measure bone bass relative to average for persons of the SAME age/race/gender of pt, would you use T score or Z score?

A

Z score

47
Q

Osteogenesis Imperfecta is a heritable disease most often due to abnormalities of what connective tissue component resulting in brittle bones?

A

abnormal osteoid; Type 1 collagen (Brittle Bone Disease)

48
Q

Name the X-linked dominant disorder characterized by extreme hypophosphatemia, renal phosphate wasting, impaired intestinal absorption of Ca and P, and rickets.

A

X-linked Hypophosphatemic Rickets (treatment: supplement phosphorus in diet)

49
Q

What condition is characterized by osteopenia, big liver, red hair, high ammonia due to low activity of urea cycle (absent ornithine, citrulline in blood) and poor bone formation?

A

Lysinuric Protein Intolerance

50
Q

What are two reasons for the phenonmenon of rigor mortis after death?

A
  1. no ATP to release bound myosin heads 2. no ATP to pump cytosolic Ca2+ back into SR
51
Q

Where in DNA does the anticancer drug dactinomycin bind?

A

intercalates into the minor groove

52
Q

What DNA repair mechanism is involved in colorectal cancer? What gene is responsible?

A

mismatch repair, MSH2

53
Q

What DNA repair mechanism is involved in repairing pyrimidine dimers caused by UV light?

A

Nucleotide Excision Repair

54
Q

Xeroderma Pigmentosum is a genetic deficiency in which DNA repair machinery?

A

nucleotide excision repair

55
Q

Name two diseases that involve misfolded proteins.

A

Alzheimer’s, Creutzfeldt-Jacob disease (prion)

56
Q

Most forms of Elhers-Danlos Syndrome involve mutations in a form of which connective tissue component?

A

collagen

57
Q

Mutations at DNA splice sites account for what percentage of all genetic diseases?

A

15.00%

58
Q

For a pt with myasthenia gravis, would you prescribe inhibitors or promoters of acetylcholinesterase?

A

inhibitors (Ach receptor channels are destroyed; want to keep more Ach in cleft)

59
Q

How are the neurotoxins alpha-bungarotoxin and curare similar and different?

A

both block Ach receptor channels; alpha-bungarotoxin effects are irreversible

60
Q

Does botox disrupt EPP pre or postsynaptically? What is the mechanism?

A

presynaptically, botulinum toxin A in botox breaks down SNARE proteins needed for synaptic vesicle fusion

61
Q

The body can make non-essential amino acids with the help of which vitamin?

A

Vitamin B6

62
Q

What are the 10 essential amino acids?

A

valine, phenylalanine, methionine, arginine, tryptophan, threonine, histidine, isoleucine, lysine, leucine

63
Q

A change in the number of CAG (glutamine) repeats leads to which neurodegenerative genetic disorder?

A

Huntington’s Disease

64
Q

What are four antibiotics that inhibit translation?

A

chloramphenicol (inhibits peptide bond formation), erythromycin (blocks E site), tetracyclines (affect tRNA binding), neomycin (bind decoding region of small subunit)

65
Q

A patient with muscle weakness, paralysis, or coma has hyper or hypocalcemia?

A

hypercalcemia (elevated threshold due to fewer open Na+ channels)

66
Q

A patient with hyper-reflexia, spontaneous twitching, muscle cramps, tingling, and numbness has hyper or hypocalcemia?

A

hypocalcemia (Na+ channels open at less positive voltages)

67
Q

A patient with muscle twitches, seizures, and asphyxiation due to spastic contraction of respiratory muscles has hyper or hypokalemia?

A

hyperkalemia (elevation in extracellular K+ leading to more positive Vm

68
Q

A patient with muscle weakness and paralysis has hyper or hypokalemia?

A

hypokalemia (decreased extracellular K+ leading to hyperpolarization)

69
Q

Does hyper or hypokalemia lead to cardiac arrhythmias?

A

both hyperkalemia and hypokalemia can lead to cardiac arrhythmias

70
Q

The common symptoms of hypokalemia and chronic hyperkalemia can resemble hyper or hypocalcemia?

A

hypercalcemia (all can manifest as depressed excitability of nerve and muscle)

71
Q

For a patient undergoing shock, would anion gap increase or decrease?

A

increase (anaerobic metabolism, lactate increases, CO2 levels drop)

72
Q

You place an IV in a patient and administer saline into a vein. What happens to the volume of the vascular compartment?

A

Initial increase, then NaCl equilibriates between vascular and rest of extracellular compartment, increasing all extracellular fluid causing tissue swelling

73
Q

A patient has respiratory alkalosis. Would you tell them to breathe faster or tell them to breathe into a paper bag?

A

breathe into paper bag (need to increase CO2 inspiration to decrease blood pH)

74
Q

For a patient with diabetic ketoacidosis, would anion gap increase or decrease?

A

increase

75
Q

A patient suffers from hyponatremia (low serum sodium) due to diarrhea; how should he be treated?

A

IV NaCl to replenish electrolytes

76
Q

A patient appears only mildly dehydrated but is moribund and has hypernatremia (high serum sodium); how should she be treated?

A

IV fluids with excess water (serum sodium high so extracellular fluid volume is high)

77
Q

Defects in which cytoskeletal element lead to polycystic kidney disease (overproduction of kidney cells leading to kidney failure)?

A

microtubules (primary cilia - failure to monitor fluid movement)

78
Q

Alpha-amanitin found in some poisonous mushrooms inhibits which component involved in transcription?

A

RNA Polymerase II

79
Q

Vitamin C deficiency leads to_____ because of ______________.

A

scurvy; synthesis of defective collagen

80
Q

Name two cancer drugs that inhibit mitosis by depolymerization of microtubules.

A

Vinblastine and vincristine

81
Q

What cancer drug inhibits mitosis by increasing assembly of microtubules in the absence of disassembly?

A

Taxol

Clinical Correlation (1 decks)

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