Usmle Stuff I Can't Remember

Front 1

ehler's danlos

Back 1

type 3 collagen defect
hypermobile joints and bleeding tendency

Front 2

elastin rich in

Back 2

proline and glycine, nonglycosylated forms
marfan's
emphesems anti tripsin deficiency breaks down this via elastase

cross linking b/t lysines off diff elastin chains give plasticity and recoil

Front 3

tRNA 3' end has

Back 3

CAA, where amino acid binds

Front 4

alport's syndrome

Back 4

type 4 collagen
BM of kidney, ears, eyes
nephritis and deafness, +/- ocular disturbances
x linked

Front 5

southern blot
northern blot
western blot

Back 5

DNA, RNA, protein

Front 6

detect single nucleotide polymorphism

Back 6

microarray p 81 FA

Front 7

if can't see anomaly on karotype use....

Back 7

FISH!

82 FA

Front 8

pleiotropy

Back 8

1 gene has more than 1 effect on same person (like PKU has all these unrelated symptoms from hair/skin changes to mental retardation)

compare to variable expression in DIFFERENT people

Front 9

heteroplasmy

Back 9

presence of both normal and mutant mitochondrial DNA results in variable expression of mitochondrial diseaes

Front 10

Angelman's versus Prader Willi

Back 10

Prader willi: deletion of normally active paternal gene. hypogonadism, mental retardation, hungry, fat, hypotonia

Angelman's: maternal allele deletion. happy puppet. mental retardation, ataxia, inappropriate laughter

chromosome 15. imprinting

Front 11

nosebleeds (epistaxis), arteriovenous malformations, skin discoloration

Back 11

hereditary hemorrhagic telangiectasia (osler-weber-rendu syndrome)
AD
inherited disroder of blood vessels. also see telangiectasia

Front 12

neurofibromatosis type 1 and type 2

Back 12

type 1:
lisch nodules (pigmented iris hamartomas)
cafe-au-lait spots
neural tumors
skeletal things (scoliosis
optic gliomas
pheochromocytoma
chromosome 17 (von Recklinghausen's disease)

type 2:
bilat acoustic neuroma
juvenile cataracts
gene on chromosome 22

both AD

Front 13

Tuberous sclerosis

Back 13

ash leaf spots

also: seizures
mental retardation
renal cysts/angiomyolipoma
cardiac rhabdomyoma
facial lesions (adenoma sebaceum)
cortical and retinal hamartomas
AD but incomplete penetrance so variable presentation

Front 14

von Hippel Lindau

Back 14

bilateral renal cell carciomas
VHL tuomor suppressor gene chrome 3
constituitive expression of transcription factor HIF so growing.

also: hemangioblastomas of retina/cerebellum/medulla (note NOT CORTEX)

AD

Front 15

cystic fibrosis infertility in men?

Back 15

b/c of bilat absence of vas deferns

AR CFTR gene on chrome 7, Cl- channels. abnormal protein folding so degraded b/f reach cell surface

actively secrete Cl- in lungs and GI
actively reabsorb Cl in skin from sweat

Front 16

muscular dystrophies, becker vs duchenne

Back 16

duchenne earlier onset. D for more Detrimental!!
dystrophin helps anchor muscle fubers esp in skeletal and cardiac muscle

Front 17

large testes. long face. autism

Back 17

Fragile X syndrome. X linked. FMR1 gene methylation and expression affected. also associated with chromosomal breaks
CGG repeats

X for Xtra large testes, jaw, ears
macro-orchidism
long face
large jaw
large everted ears
autism
mitral valve prolapse

Front 18

Fredreich's ataxia etiology

Back 18

GAA repeats

Front 19

patau vs edwards

Back 19

patau: ch 13
cleft lip/Palate
holoProsencephaly
Polydactyly

also: rocker bottom feet
micropthalmia (small eyes)
microcephaly (small head)
mental retardation
~~~~~~~~~~~~~~~~~~~~~
Edward's: 18
micrognathia (small jaw)
clenched hands
low set ears
mental retardation
prominent occiput

NOTE: both have mental retardation and death within 1 year usually

Front 20

dry skin and decreased immunity

Back 20

vit A def
only few months store even tho fat soluble
also night blindness

Front 21

Vt b1 cofactor for

Back 21

thiamine.
pyruvate dehydrogenase (glycolysis
alpha-ketoglutarate dehdrogenase (TCA)
transketolase (HMP shunt)
branched chain AA dehydrogenase

p 91

Front 22

inflammed lips and scaling around corners of mouth

Back 22

Vit b2 riboflavin def
cheilosis (inflamm of lips), scaling/fissures around corners of mouth
corneal vascularization

redox things as FADH2.
succinate dehydrogenase cofactor (TCA, succinate to fumarate)

Front 23

hot feet and hair loss

Back 23

vit b5 (pantothenate)

def: dermatitis
enteritis
alopecia
ADRENAL INSUFF

Front 24

vit def caused by:
1. Isoniazid
2. Oral contraceptive
3. diphyllobathrium latum
4. phenytoin
5. sulfonamides
6. MTX

Back 24

1 and 2: vit B6
3: vit b12
4-6: folic acid

Front 25

hemolytic anemia and vitamin etiology?

Biotin Functions?

Back 25

vit E. protects from free radical damage

cofactor:
pyruvate carboxylase (pyruvate to oxaloacetate) (gluconeogenesis)
acetyl CoA carboxylase (Acetyl coA to malonyl coA) (FA synth)
propionyl co A carboxylase (propionyl coA to methylmalonyl coA) (odd chain FA use, to TA as succinyl coA)

carboxylase means add 1 C so all turn 3C to 4C
def via excessive raw eggs, avidin in egg whites bind it

Front 26

garlic breath, rice water stools, vomitting

Back 26

arsenic poisoning. inhibit lipoic acid needed for pyruvate dehydrogenase complex in glycolysis (pyruvate to acetyl co A)

Front 27

purely ketogenic aas?

Back 27

lysine, leucine. eat in pyruvate dehydrogenase deficiency (needed for pyruvate to acetyl coA in glycolysis)

--see back up of pyruvate and alanine
(pyruvate converts to alanine)

Front 28

pyruvate kinase deficiency

Back 28

converts PEP to pyruvate (remember 'kinases' convert to product, like PEP carboxykinase which converts 1,3 BPG to PEP).
HEMOLYTIC ANEMIA results b/c can't maintain Na/K pump so rbc swelling/lysis

remember: RBC metabolize glucose anaerobically so only depend on glycolysis.

Front 29

Kreb's cycle path

Back 29

Citrate Is Kreb's Starting Substrate For Making Oxaloacetate

Citrate, iso citrate, alpha-ketoglutarate, Succinyl co A, succinate, Fumarate, Malate, oxaloacetate p 100

Front 30

alpha ketoglutarate dehydrogenase and pyruvate dehydrogenase both use

Back 30

lipoic acid, B1, B2, B3, B5.

alpha ketoglutarate: Kreb's cycle. (citrate is kreb's starting substrate for making oxaloacetate) (converts alpha-ketoglut to succnyl coA)

pyruvate dehydrogenase: glycolysis. converts pyruvate to acetyl coA. w/o see back up of alanine and pyruate (pyruvate can convert to alanine, alanine feedback inhibs glycolysis via inhib phosophofructokinase1, the rate limiting step)

Front 31

ETC. oxidative phosphorylation poisons?

Back 31

1. Rotenone, CN-, antimycin A, CO: ETC inhib directly, so decreased proton gradient and block ATP synthesis

2. Oligomycin (natural macrolide, not used i think): ATPase inhib. see increased proton gradient, but not further ATP production b/c one that's made can't be broken down, so electron transport stops

3. 2,4-DNP, aspirin, brown fat: uncoupling agents. increase permeability of membrane, so decreased proton gradient and increased O2 consumption. ATP synth stops but electron transport continues so energy dissipates as heat

Front 32

Gluconeogenesis pathway enzymes

Back 32

pathway produces fresh glucose

pyruvate carboxylase
PEP carboxykinase
Fructose 1,6-bisphosphatase
glucose 6 posphatase

in liver.

Front 33

peripheral neuropathy, cardiovascular or renal problem, angiokeratoma and lysosomal storage problem

Back 33

fabrey's disease