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34 Cards in this Set
- Front
- Back
Pathogenesis of marasmus? |
Chronic low intake of total calories |
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Presentation of marasmus? |
< 60% IBW, no peripheral edema, xerosis, lanugo (hypertrichosis lanuginosa acquisita) |
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< 60% IBW |
marasmus |
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Protein deficiency that typically presents with edema? |
kwashiorkor |
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Lanugo in adults is associated with which cancers? |
lung, colon, breast |
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60-80% IBW? |
kwashiorkor |
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Presentation of Kwashiorkor? |
60-80% IBW, desquamation and superficial erosions 'flaky paint', dyschromia |
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Dermatitis of intertriginous regions, alopecia, xerotic/leathery skin --> all indicative of an essential fatty acid deficiency?
What are the essential fatty acids? |
linoleic acid, linolenic acid, arachidonic acid |
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vitamin deficiency? |
Vitamin A
Bitot spots |
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Vitamin A deficiency manifests as? |
dry, wrinkled skin, phrynoderma (keratotic perifollicular papules), bitot's spots (keratin deposits on conjunctiva), keratomalacia (softening of the cornea with eventual corneal ulceration with prolapse of iris), night vision |
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What is often the first sign of vit A deficiency? |
night blindness |
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Supplements for vitamin A deficiency? |
100,000- 300,000IU daily, visual disturbances correct in days, skin lesions resolve in weeks to months
In developing countries, supplementation recommended for all young children and postpartum women, plus patients with **measles** |
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Isotretinoin + new onset headaches? |
Pseudotumor cerebri with papilledema |
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RF for vitamin D deficiency? |
breast fed infants, AA, limited sun, advanced age, BMI > 30 |
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Which lab should you check to get the most accurate estimate of body vitamin D stores? |
25- hydroxy vitamin D |
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UV spectrum needed for vit D? |
UVB (295-300nm) |
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Sources of vitamin K? What is it needed for? |
50% from diet
50% from gut
cofactor for clotting factors II, VII, IX, X, protein C, protein S |
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Presentation of beriberi? Deficiency of what? |
Vitamin B1 (thiamine)
edema, glossitis/glossodynia, Korsakoffs (peripheral neuropathy, mental confusion, confabulation), Wernickes encephalopathy ( ophthalmoplegia, ataxia, confusion) |
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Presentation of oro-oculo-genital syndrome? Deficiency of what? |
Vitamin B2 (riboflavin)
scaly papules, ulcers and seb derm like changes around mouth, nose, ears, genitals
**magenta tongue** |
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vitamin deficiency? |
Vitamin B3 deficiency (niacin)
Casal's necklace |
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Presentation of Vitamin B3 deficiency? |
Vitamin B3 = NIACIN
PELLAGRA (dermatitis, diarrhea, dementia) |
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Eating a corn based diet can lead to Pellagra (concurrent tryptophan deficiency). What medications can cause Pellagra? |
INH, anticonvulsants, 6MP, 5FU |
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What is Hartnup's disease? Gene mutation? |
XR decreased absorption of tryptophan
SLC6A19
photodistributed pellagra like malar erythema, intermittent ataxia, nystagmus, psychiatric disturbances |
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Starting a patient on isoniazid warrants supplementation with... |
vitamin B6, to avoid macrocytic anemia |
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Anemia with neurologic symptoms? Without neurologic symptoms? |
Macrocytic anemia with neuro sx: Vit B9 (folate) def
Macrocytic anemia without neuro sx: Vit B12 def |
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Key findings in vitamin C deficiency? |
5 H'S
Hyperkeratosis of hair follicles Hairs in corkscrew Hemorrhage (perifollicular, gingival) Hematologic abnormalities (anemia) Hypochondriasis |
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Difference between type I and type III zinc deficiency? |
I: inadequate intake d/t TPN or low breast milk concentration of Zn (mom has a mutation in SLC30A2), this will present at birth
III: malabsorption d/t mutation in SLC39A4 (ZIP4) in child, presents after weaning |
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acrodermatitis enteropathica
Zinc deficiency |
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Necrolytic acral erythema is associated with? |
Hepatitis C |
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Necrolytic migratory erythema is associated with? |
glucagonoma |
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Cutaneous features of iron deficiency? |
koilonychia, glossitis, brittle, lusterless hair |
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Mutation in hemochromatosis? |
HFE
increased iron absorption in gut into many tissues --> metallic grey pigmentation, koilonychia, hepatomegaly, cardiac failure, IDDM |
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Mutation in Menkes kinky hair disease? Inheritance? Hair presentation? |
XLR mutation in MNK (ATP7A) --> defective copper absorption, manifests at 2-3 months of age as FTT, MR, seizures, tortuous arteries and kinky hair (pili torti, monolithrex), very poor prognosis |
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Mutation in Wilson disease? Where is the copper depositing in Kayser Fleisher rings? |
APT7B gene encodes ATPase Cu+ transporation polypeptide --> high copper level, low ceruloplasm level
copper deposits in Descemet's membrane for KFR |