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NPLEX I > USMLE First Aid > Flashcards

USMLE First Aid Flashcards

1
Q

Duchenne disease typically due to

A

frameshift (deletions, duplications, or nonsense) mutations

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2
Q

which protein is defective in duchenne?

A

dystrophin

Duchenne=Deleted Dystrophin

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3
Q

Becker disorder typically due to

A

non-frameshift insertions

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4
Q

which protein is partially defective in Becker’s?

A

dystrophin

-only partially defective so less severe than Duchenne’s

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5
Q

Down syndrome involves which chromosome?

A 
Chromosome 21 (trisomy 21)
-Drinking age (21)
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6
Q

Edwards syndrome involves which chromosome?

A 
Chromosome 18 (trisomy 18)
-Election age (18)
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7
Q

Patau syndrome involves which chromosome?

A 
Chromosome 13 (trisomy 13)
-Puberty (13)
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8
Q

Cri-du-chat syndrome has what notable sx?

A

high-pitched crying/mewing

cri du chat= cry of cat

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9
Q

Fat soluble vitamins

A

A, D, E, K

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10
Q

water soluble vitamins

A 
B1 (thiamine: TTP)
B2 (riboflavin: FAD, FMN)
B3 (niacin: NAD+)
B5 (pantothenic acidS: CoA)
B6 (pyridoxine: PLP)
B7 (biotin)
B9 (folate)
B12 (cobalamin)
C (ascorbic acid)
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11
Q

Vit A
aka
function

A
  • Retinol

- vision and skin

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12
Q

Vit B1
aka
function

A
  • Thiamin

- in thiamin pyrophospate (TPP), a cofactor for several dehydrogenase enzyme rxns

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13
Q

which two conditions result from thiamin deficiency?

A
  • Wernicke-Korsakoff syndrome

- Beriberi

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14
Q

Vit B2
aka
function

A
  • Riboflavin

- FAD and FMN are derived from riboFlavin, cofactors in redox rxns

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15
Q

Vit B2 deficiency leads to what sx?

A

Cheilosis
Corneal vascularization
*2Cs of B2

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16
Q

Vit B3
aka
function

A
  • Niacin

- NAD derived from niacin

17
Q

Vit B3 deficiency leads to what dz? what are the sx of this dz?

A
  • Pellagra

- Diarrhea, Dementia, Dermatitis (3 D’s of B3)

18
Q

Vit B5
aka
function

A
  • pantothenic acid (B5 is “pento” thenic)

- coenzyme A (CoA) is derived from pantothenic acid

19
Q

Vit B6
aka
function

A
  • pyridoxine
  • pyridoxal phosphate (PLP) is derived from pyridoxine, a cofactor in transamination, decarboxylation, glycogen phosphorylase
20
Q

Vit B7
aka
function

A
  • biotin

- cofactor for carboxylation enzymes (add a 1-carbon group)

21
Q

deficiency of biotin is rare, but excessive consumption of what might cause a deficiency?

A

egg whites or antibiotics

“AVIDin in egg whites AVIDly binds biotion”

22
Q

Vit B9
aka
function

A
  • folate

- tetrahydrofolic acid (THF) derived from folate, (a coenzyme for 1-carbon transfer/methylation)

23
Q

folate deficiency leads to what dz?

A

macrocytic megaloblastic anemia

hypersegmented polymorphonuclear cells (PMNs)

24
Q

when is folate deficiency seen?

A

alcoholism

pregnancy

25
Q

Vit B12
aka
function
storage

A
  • cobalamin
  • cofactor for homocystein methyltransferase (transfers CH3 groups) and methylmalonyl-CoA mutase
  • liver, large reserve pool (several years)
26
Q

B12 def leads to what? caused by?

A

macrocytic megaloblastic anemia
hypersegmented PMNs

insufficient meat intake -> veganism
malabsorption
lack of intrinsic factor -> pernicious anemia

27
Q

Vit C
aka
function

A
  • ascorbic acid

- antioxidant, facilitates iron absorption by reducing it to Fe2+, collagen synthesis, converting dopamine -> NE

28
Q

Vit C def leads to what dz?

A

scurvy (vit C cause sCurvy due to Collagen synthese defect)

29
Q

Vit D

types

A

D2- from plants
D3- from milk and exposure to sun
25- OH D3 - storage form
1,25-(OH)2 D3 = calcitriol = active form

30
Q

Vit D

function

A

incr intestinal absorption of calcium and phosphate

incr bone mineralization

31
Q

Vit D deficiency leads to what dz?

A

Rickets - children

Osteomalacia - adults

32
Q

Vit K
aka
function

A
  • phytomenadione, phylloquinone, phytoandione

- K is for Klotting, necessary for the maturation of clotting factors II, VII, IX, X and proteins C and S

33
Q

Vit K is an antagonist to which medication?

A

Warfarin

34
Q

Vit K deficiency leads to? when might this occur?

A

-neonatal hemorrhage with incr PT and aPTT (extrinsic and intrinsic respectively) and normal bleeding time
-neonates have sterile intestines and are therefore unable to synthesize Vit K (therefore Vit K shot is given at birth)
and after prolonged use of broad-spectrum abx (disruption of flora)

35
Q

Kwashiorkor, a protein malnutrition dz, has what clinical picture?

A 
Kwashiorkor results from a protein def MEAL:
Malnutrition
Edema
Anemia
Liver (fatty)
36
Q

Marasmus, a total calorie malnutrition dz, has what clinical picture?

A

Marasmus results in Muscle wasting

NPLEX I (1 decks)

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