MUST MEMORIZE Flashcards
(411 cards)
What are the five GI associations with Down syndrome?
Hirschsprungs, TE fistula, annular pancreas, celiacs disease, duodenal atresia
What would a quad screen for down syndrome show?
increased beta hCG, increased inhibin A, decr alpha FP, decr estriol
What are unique findings for edwards syndrome?
Hands (clenched), jaw (small), ears (low set), head (large posterior)
What are the GI associations in edwards syndrome?
Malrotation, meckels
What are the unique side effects of patau’s syndrome?
holoProsenchephaly (can actually also be seen in edwards), cleft liP/Palate, polydactyly, decrease PAPPA
What are the GI associations with patau’s?
umbilical hernia, omphalocele, pyloric stenosis
What is CATCH22?
for 22q11 deletion syndrome Cleft palate Abnormal facies thymic aplasia Cardiac defects (the trunc falls from 22 to 11) Hypocalcemia (parathyroid aplasia)
Important things about vitamin A
Deficiency-> night blindness and dry skin
Excess -> HSM, skin, neuro (incl incr intracranial pressure), arthralgia, vision problems
Teratogen
Treats MEASLES and AML (APL 15:17)
Nuclear receptor
What four enzymes use B1 (thiamine)
Maple syrup give me ATP alpha ketoacid dehydrogenase alpha ketogluterate dehydrogenase transketolase pyruvate dehydrogenase
What happens in riboflavin (B2) deficiency?
What enzyme need B2
2 Cs of B2
Cheilosis and corneal vascularization
Succinate dehydrogenase (succinate -> fumarate)
What cholesterol drug is best at increasing HDL?
Niacin
What is the precursor to niacin and what cofactor is needed?
Tryptophan and B6
What are they symptoms of niacin deficiency?
The 3 D’s of B3
Diarrhea, Dermatitis, Dementia (ataxia), +/- death
What can vitamin E deficiency cause?
E is for erythrocytes -> anemia (hemolytic d/t incr fragility)
Friedrich’s like neuro problems: demyelination of the posterior columns and spinocerebellar tracts
What are the functions of zinc/ things are absent with zinc deficiency?
2 senses, 3 H's Smell Taste Hypogonadism Hair Healing of wounds
what are the ketogenic aminoacids?
Leucine, lysine (used for PDH deficiency)
What are the essential amino acids
PVT TIM HALL
What are hydrophobic amino acids
GAV LIP TMP
What cofacto are needed for transamination reactions (transfer of NH3)?
B6
What cofactor is needed for lactic acid dehydrogenase?
B3
What are the symptoms of PKU
Musty or mousy smell seizures eczema fair skin mental retardation if not caught earlyq
What enzyme controls conversion of NE to E and what regulates it?
PNMT, positively regulated by cortisol.
SAM is a necessary cofactor
Whats the saying for homocystinuria?
Is kinda RETARDED to be a TALL, HOMO with AKO- osis and lens subluxation.
What is the saying for fabrys disease?
Alpha gal’s always look FAB break hearts on their TRIcycles until they crash because of their painful neuropathy and get a kidney shot.