Diseases And Shit

Front 1

Familial hypercholesterolemia

Back 1

X LDL-R

Dec LDL uptake -> Inc LDL in blood

/\ Total cholesterol
/\ HDL
= TG's

Xanthomas, eyelid cholesterol depo, Early-onset Angina/CAD sy's

Front 2

Familial hypertriglyceridemia

Back 2

~X LPL

/\ circ TG's

Asians (polymorphism not LoF)

Front 3

Atherosclerosis

Back 3

1. LDL in circulation too long
2. LDLox Enters BV Intima
3. LDLox-> (m-phage -> foam cell)

Front 4

What are the 3 chief worldwide causes of cirrhosis?

Back 4

1. ** EtOH **
2. Viral hep
3. NASH

Front 5

What is the pathogenesis of cirrhosis?

Back 5

1. Hepatocyte death
2. ECM deposition (by stellate cells)
3. Vascular reorganization (irt Kuppfer activation -> cytokine release)

Front 6

Why does jaundice occur in cirrhosis?

Back 6

Parenchyma <--X--> Portal tracts

Front 7

What are the 3 morphological characteristics of cirrhosis?

Back 7

1. Bridging fibrous septa [portovenous backup -> portalHTN w/ varices etc]
2. Parenchymal nodules (dt hepatocyte regen/scarring)
3. DIFFUSE/TOTAL Liver architecture disruption

Front 8

3 nonspecific cirrhosis symptoms?

Back 8

Anorexia
Weight loss
Sy's of hep failure (or hepatic encephalopathy)

Front 9

3 Ultimate causes of death from cirrhosis?

Back 9

1. Progressive Liver failure
2. Complications of Portal HTN
3. RF Hepatocellular Carcinoma

Front 10

What is the toxic intermediate in ethanol metabolism?

Back 10

Acetaldehyde

Front 11

What inhibits Alcohol DH?

Back 11

Fomepizole
(NAD+ availability?)

Front 12

What inhibits Acetaldehyde DH?

Back 12

Disulfram (gives you a bad hangover)

Front 13

Describe the French Paradox

Back 13

Red Wine
-> Flavinoids ... incl:
Resveratrol ->
1) antioxidant properties (X LDL -> OxLDL)
2) antiinflammatory (X m-phage activation, X cytokine release)

Front 14

What is the progression of EtOH-induced liver disease?

Back 14

1. Fatty liver (hepatic steatosis)
2. EtOH-induced hepatitis
3. Cirrhosis

Front 15

What determines the rate of EtOH oxidation?

Back 15

Alcohol DH + Acetaldehyde DH isoforms

Fat:H2O volume (Women get more concentration of EtOH oxidation dt high fat:H2O profile)

Front 16

Glitazones (rosglitazone)

Back 16

PPAR-gamma agonists
(also, increases insulin sensitivity)

Indications: To decrease CVDz risks

MOA: Increases FA uptake into adipocyte

SE/Tox: 1. Stroke, 2. MI, 3. Weight gain!

Front 17

Hyperammonemia

Back 17

Cause? X Glutamine
synthase
[[Glutamate -> Glutamine]]

Depletes a-kg from TCA ->
ATP/nt depletion

Sy's:
*Coma/death*
Tremor, n/v slurred speech, somnolence, blurred, vzn, cerebral edema

Front 18

Tyrosemia-1

Back 18

X Fumaryl-acetoacetyl hydroxylase

(Tyr -> Fumarate)

Tyr buildup: toxic!
Liver failure, RTA, hepatocellular carcinoma

Front 19

Alkaptonuria

Back 19

X Homogentistic acid oxidase

(Tyr -> Fumarase)

*Large joint arthritis
BLACK (Oxidized) URINE DISEASE
Homogentistic aciduria

Front 20

PKU

Back 20

X Phe hydroxylase/BH4

Ile, Phe, Trp -> Tyr

MR @ 1 yo
Skin hypopigmentation

Front 21

MSUD

Back 21

(BCAA's (Ile, Leu, Val) -->Isoleucyl-CoA, isobutyryl-CoA

**MSUD odor
**Tox of brain function
**

Front 22

What are the ketogenic amino acids?

Back 22

Leu, Lys

Front 23

What amino acids are BOTH glucogenic and ketogenic?

Back 23

Ile, Phe, Trp

Front 24

What enzyme is deficient in hereditary hyperammonemia?

Back 24

OTC

Front 25

ADA

Back 25

X ADA
(Adenosine -> Inosine + NH4 [purine degradation])

SCID (B's+T's)

Tx: BM, ez supp, gene tx

Front 26

Gout/Gouty arthritis/hyperuricemia

Back 26

X Xanthine oxidase (usually)

Monosodium urate > solubility
-> recurrent inflammatory arthritis

Tx: allopurinol (X.O. inhibitor)

Front 27

How does intense exercise affect the purine degradation pathway?

Back 27

AMP --(AMP deaminase)--> [**inc IMP] + NH4

Front 28

Purine salvage pathways

Back 28

(Hypoxanthine / Guanine)
+ PRPP
-----(HGPRTase)----->
(IMP / GMP)
+ PPi

Front 29

Lesch-Nyhan Syndrome

Back 29

X HGPRTase ->
X Purine Salvage pathway ->
Inc PRPP ->
Inc Purine degradation
-> hyperuricemia + self-mutilation

[Tx: allopurinol]

Front 30

Nucleotide dz:
Gout

Back 30

Cause: Multiple causes
Inc: Uric acid
Sy: Joint pain

Front 31

Nucleotide dz:
SCID

Back 31

Cause: X ADA
Inc: deoxyadenosine
Sy: X B&T cells

Front 32

Nucleotide dz:
Immunodef. dz

Back 32

Cause: X PRPP
Inc: Purine nucleosides
Sy: X T cells

Front 33

Nucleotide dz:
Lesch-Nyhan Syndrome

Back 33

Cause: X HGPRT
Inc: Purines, uric acid
Sy: MR, self-mutilation

Front 34

Nucleotide dz:
Hereditary orotic aciduria

Back 34

Cause: X Uridine 5`MP synthase
Inc: Orotic acid
Sy: Growth retardation, megaloblastic anemia