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*First Aid in Brainscape* > Jorb's Biochem Buzzwords > Flashcards

Jorb's Biochem Buzzwords Flashcards

1
Q

Nucleoside vs Nucleotide

A 
Side = Sugar
Tide = phosphaTe
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2
Q

Orange crystals in diaper

A

Hyperuricemia. Probably gout –> Lesch Nyhan.

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3
Q

Decreased T and B cells in Infant

A

SCID or Adenoside Deaminase Deficiency.

Too much dATP - feedback inhibition or ribonucleotide reductase - prevents DNA synth

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4
Q

I’m for sure going to get colon cancer because I can’t fix my DNA. Dang.

A

Defective mismatch repair

think Dr. Cormier (colon cancer) MISMATCHes his clothes

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5
Q

Real bad sunburn after a little bit of sun in an infant. Also painful eyes.

A

Xeroderma Pigmentosa - defective nucleotide excision repair.

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6
Q

“coarse facial features”

cloudy cornea

A

I-cell disease

Golgi can’t phosphorylate mannose.

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7
Q

Dextrocardia, situs inversus, sinusitis

A 
Kartagener Syndrome (ciliary dyskineaseia)
dynein defect
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8
Q

Collagen type I

A

Bone, skin tendons, teeth, cornea, wound repair

Osteogenesis Imperfecta

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9
Q

Collagen type II

A

CarTWOlage

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10
Q

Collagen type III

A

Blood vessels = most important. Also skin, fetal tissue, granulation tissue. Vascular type of Ehler’s Danlos effects this

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11
Q

Collagen type IV

A

Basement membrane
Alport - defective
Goodpastures - Ab’s against it

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12
Q

Let’s say I have scurvy, how does that affect my collagen

A

Hydroxylation of proline and lysine requires vitamin C in the Rough ER

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13
Q

How do Ehler’s Danlos and Menke’s affect collagen synthesis? you idiot.

A

Cross-linking.

Menke’s disease - no copper. need that to cross link - lysyl oxidase enzyme

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14
Q

Blue sclera
dental problems
fracturing bones

A

Osteogenesis Imperfecta.

Auto Dominiant. type I collagen

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15
Q

Alpha 1 antitrypsin express what kind of genetic dominance

A

Codominance

just like blood types. Both alleles contribute to phenotype in heterozygotes

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16
Q

Literally can’t not eat. Eat everything. nom nom nom. I’m fat and disabled. And probably hungry.

A

Prader-Willi syndrome
mom gene - silent (imprinted)
Paternal gene - deleted.

17
Q

Hahaha laughing is fun and my arms are like a Puppet.

btw, I’m disabled and have seizures hahaha. haha. ha.

A

AngelMan Syndrome
dad gene - imprinted
Mom gene - deleted.

18
Q

I have a shit-ton of colon polyps. But I’m just a tween! Is that normal?

A

Nah. You shouldn’t have those. It’s Familial adenomatous polyposis. It’s autosomal dominant.

19
Q

Xanthoma on achilles tendon.

A

Familial hypercholesterolemia

20
Q

Weird bumps all over skin, keep sneezing blood, peeing blood, GI bleeds.

A

Hereditary telangictasia. Osler-weber-rendu

21
Q

RBC’s are just spheres.

A

Hereditary spherocytosis. Spectrin or ankyrin defect. get your spleen out.

22
Q

Ear cancer on both sides. cataracts as a kids.

A

Neurofibromatosis II

23
Q

brown skin spots. pheochomocytoma. eye problems

A

Neurofibromatosis I

24
Q

Recurrant pulmonary infxns, pseudomonal. Bronchitis. steatorrhea (fat in shit)

A

Cystic fibrosis

25
Q

Use upper extremities to stand

A

Gower maneuver
Duchenne
frameshift on dytrophin gene

26
Q

Partially functional dystrophin gene

A

Becker dystrophy

it’s duchenne’s but not a framshift, so it still kinda works.

27
Q

tiny balls
bald
muscles suck and arrythmia

A 
Myotonic dystrophy
my tonia
my testes
my toupee
my ticker
28
Q

Huge balls
large jaw and ears
autistic

A

Fragile X

methylation and expression of FMR1 gene

29
Q

Autosomal Dominant diseases.

A 
Hunting MEN FAP thier Tubes and Shperes in Hip Cafés and get Tele Chols from Li about Marfans. 
Huntingtons
Multiple Endocrine Neoplasia 
Tuberous Sclerosis 
Hereditary Sphereocytosis
von Hippel-Lindau
Cafe = Neurofibromatosis type 1 (NF2 is also dominant but doesn't have cafe au lait spots)
familial hyperCHOLesterolemia
Li-Fraumeni
Marfans
30
Q

Autosomal Recessive diseases. Think Recess

A

Wilson is on Recess in Kindergarten. He Hurls a Pokemon pop Sickle with his fingers at his Albino sister who he called a homo because she got a Beta fish from the Store.
Wilson’s Disease
Kartagener’s syndrome
Hurler’s Disease
pokemon = PKU
Sickle Cell
finger = sphingolipidoses (except fabry’s)
Albanism
sister = CYSTic fibrosis and HOMOCYSTinuria
Beta = Thalassemia
store = Glycogen Storage diseases

31
Q

brushfield spots

A

white things of the iris of someone with down syndrome

*First Aid in Brainscape* (37 decks)

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