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STEP 1 > Endocrine > Flashcards

Endocrine Flashcards

1
Q

Apolipoprotein expression

A 
A = lcAt Activation
B-48 = chylomicron secretion (young secretion)
B-100 = LDL receptor binding (mature uptake)
C = Cofactor for LPL
E = rEmnatns (uptake by liver)
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2
Q

LCAT vs. CETP

A 
LCAT = esterification of cholesterol (produces mature HDL)
CETP = transfer of cholesterol esters to other lipoprotein particles
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3
Q

LPL function

A

Lipoprotein lipase (requires apoC cofactor)

Chylomicrons -> chylomicron remnants
VLDL -> IDL

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4
Q

Familial dyslipidemias (and deficiencies)

A

I: Hyperchylomicronemia (LPL or apoC deficiency)
II: Hypercholesterolemia (absent LDL receptor or B-100)
III: Dysbetalipoproteinemia (apoE defect)
IV: Hypertriglyceridemia (overproduction of VLDL)

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5
Q

Glucagonoma:
What is it?
Presentation
Tx

A 
Tumor of a cells: glucagon production
5 D's:
Dermatitis (necrolytic migratory erythemia)
Diabetes (hyperglycemia)
DVT
Declining weight
Depression

Tx: octreotide, surgery

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6
Q

Insulinoma

A 
Tumor of ß cells: insulin production
Whipple triad:
Low blood sugar, symptomatic hypoglycemia, resolution with glucose
Use C-peptide (vs exogenous insulin)
MEN-1
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7
Q

Somatostatinoma

A

Tumor of delta cells: SST production, decreased other pancreatic productions
Pres: diabetes, steatorrhea, gallstones

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8
Q

Hormone secreting tumors of the pancreas

A

a cells = glucogonoma
ß cells = insulinoma
delta cells = SSToma
ZE = gastrinoma

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9
Q 
Fabry dz
Inheritance
Major s/sx
Deficient enzyme
Accumulated substrate
A

XR
Peripheral neuropathy, angiokeratomas, hypohidrosis
a-galactosidase A
Ceramide trihexoside

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10
Q 
Gaucher dz
Inheritance
Major s/sx
Deficient enzyme
Accumulated substrate
A 
AR
HSM, pancyto, osteoporosis, aseptic necrosis, bone pain
Crumpled tissue paper macs
Glucocerebrosidase
Glucocerebroside
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11
Q 
Niemann-Pick
Inheritance
Major s/sx
Deficient enzyme
Accumulated substrate
A

AR
Neurodegeneration, cherry red spot, foam cells, HSM
Sphingomyelase
Spingomyelin

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12
Q 
Tay-Sachs
Inheritance
Major s/sx
Deficient enzyme
Accumulated substrate
A

AR
Neurodegeneration, cherry red spot, onion skin lysosomes, NO HSM
Hexosaminidase A
GM2 ganglioside

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13
Q 
Krabbe
Inheritance
Major s/sx
Deficient enzyme
Accumulated substrate
A

AR
Peripheral neuropathy, developmental delay, optic atrophy
Galactocerebrosidase
Galactocerebroside

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14
Q 
Metachromatic leukodystrophy
Inheritance
Major s/sx
Deficient enzyme
Accumulated substrate
A

AR
Central/peripheral demyelination, ataxia, dementia
Arylsulfatase A
Cerebroside sulfate

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15
Q 
Hurler syndrome
Inheritance
Major s/sx
Deficient enzyme
Accumulated substrate
A

AR
DDelay, gargoylism, airway obstruction, corneal clouding, HSM
a-L-iduronidase
Heparan sulfate/dermatan sulfate

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16
Q 
Hunter syndrome
Inheritance
Major s/sx
Deficient enzyme
Accumulated substrate
A

XR
Mild Hurler, aggressive, NO corneal clouding
Iduronate sulfatase
Heparan sulfate/dermatan sulfate

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17
Q

B1
Name
Cofactor
Deficency

A 
Thiamine
ATP: a-ketoglutrarate DH (branched chain), Transketolase, Pyr DH
Wernicke-Korsakoff
Dry beriberi
Wet beriberi
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18
Q

B2
Name
Cofactor
Deficency

A

Riboflavin
FAD and FMN formation (succinate DH)
Cheilosis, corneal vascularization

Sucs to suck (lips)

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19
Q 
B3
Name
Cofactor
Deficency
Excess
A

Niacin
NAD+, NADP+ reactions
Glossitis, pellagra
Hartnup disease

Facial flushing (PG rxn, take aspirin)
Hyperglycemia
Hyperuriemia

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20
Q

B7
Name
Cofactor
Deficency

A 
Biotin
Carboxylation enzymes
Pry -> OAA (pry ca)
a-CoA -> malonyl-CoA (acetyl-CoA ca)
propionyl-CoA -> methylmalonyl-CoA (prop-CoA ca)
Dermatitis, alopecia, enteritis
Abx use OR excessive raw egg whites
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21
Q

Lab findings in DKA

A

HyperK+ (putting H+ into cells)
HypoNa+ (trying to reduce volume)
Glucose up

22
Q

Pseudohypoparathyroidism lab findings

A

End organ resistance to PTH
Low Ca, High Phos, High PTH

GNAS-1 defect -> short metacarpal/tarsal bones

23
Q

Hypoketotic hypoglycemia

A

May look like Glycogen storage problem but:
Medium chain acyl-CoA DH deficiency
Classic hypoketotic
S/Sx: vomit, seziure, coma/lethargy, hepatomegaly

24
Q

Autoimmune gastritis

A

Decreased acid production -> increased gastrin release

Parietal cells also decreased -> less intrinsic factor

25
Q

Acanthosis nigracnas

A

Usually associated with T2DM

BUT rapid appearance can also be GI or lung cancer (ex. gastric adenocarcinoma)

26
Q

Amyloid deposition in islet cells

A

Pathologic of T2DM

27
Q

Exclusively ketogenic amino acids

A

Lysine
Leucine

Useful for supplementation in Pyruvate DH deficiency

28
Q

Routes of infection for liver and bugs

A

Hematogenous - staph aureus
Ascending cholangitis - enterics (E. coli, klebs, enterococci
Ascending via portal system from colon (E. histolytica)

29
Q

Types of diverticulum

A

True (all 3 layers outpouch: Meckel’s)

False (only mucosa and submucosa outpouch: Zenker)

30
Q

Moldy grains could be what?

Lead to what cancer?

A

Aflatoxin -> aspergillus
Classic G:C to T:A mutation
Hepatocellular carcinoma

31
Q

GI manifestations of CF

A 
Obstruction (10-20%)
Pancreatic dz (insufficiency, CF related diabetes)
Biliary cirrhosis
32
Q

Malrotation

A

Failure to rotate
Fibrous bands = Ladd bands
Can lead to volvulus (midgut in infants, sigmoid in elderly)

33
Q

Tea colored, odorless, watery stool?

34
Q

Alcohol vs. non-alcohol fatty liver dz: how you tell the difference?

A

AST>ALT in EtOH (make a toAST)

ALT>AST in non-EtOH (L = Lipids)

35
Q

Lac operon components

A

Regulatory
Promotor - cAMP-CAP binds for induction
Operator - can be bound by protein for inhibition

36
Q

How does HBV help HDV become infectious?

A

HBV provides surface antigen that coats HDV before it can infect hepatocytes and multiply

37
Q

Th cell involvement in UC vs. Crohn’s

A

Crohn’s -> noncaseasting granuloma = Th1

UC -> Th2 -> damage

38
Q 
Ulcer burrowing through each of these means which vessel is at risk?
Posterior wall duo?
Lesser curvature of the antrum?
Lesser curvature of the body?
Greater curvature of the antrum?
Greater curvature of the body?
Posterior antrum/body?
A 
Posterior duo: gastroduodenal
LC antrum: right gastric
LC body: left gastric
GC antrum: right gastroepiploic
GC body: left gastroepiploic
Posterior antrum/body: splenic
Fundus (if that's a thing): short gastric
39
Q

Hirschsprung dz pathogenesis

A

Abnormal migration of NCC (which become Meissner and Auerbach plexi)
They migrate caudally, therefore rectum alway affected

40
Q

3rd portion of the duo vessel relationship?

41
Q

Types of polyps and malignant risk

A

Hyperplastic: benign
Hamartomatous: usually benign. Peutz-Jeghers assoc.
Adenomatous: Neoplastic: APC->KRAS, villous>tubular for malignancy
Serrated: premalignant, CpG hypermeth -> BRAF (saw-tooth of crypts)

42
Q

D-xylose intestinal absorption

A

Monosacc - absorbed without any enzyme modification (can be used to test brush border integrity independent of pancreas)

43
Q

Kaposi’s Sarcoma colon manifestations

A

Red/violet flat maculopapular lesions or hemorrhagic nodules

On biopsy: spindle shaped tumor cells with vessel proliferation

44
Q

Crohn’s dz with easy brusing?

A

Loss of bile salts leading to inadequate absorption of ADEK

No K = bleeding

45
Q

Pathogenesis of fatty liver in EtOH

A

EtOH leads to decreased in free fatty acid oxidation due to increased NADH production by aldehyde DH and alcohol DH

46
Q

Alkaptonuria pathway

A

Tyrosine to Fumerate is overall pathway

Homogentisic acid dioxgenase = defective enzyme

47
Q

Congenital hypothyroidism: S/Sx.

A

Initially no sx. -> Maternal t4

Then: lethergy, hoarse cry, poor feed, constipation, large fontanelles

48
Q

Orotic acid build up +/- hyper-ammonia

A

Orotic acid + hyperammonemia = ornithine transcarbamaylase deficiency (urea cycle)

Orotic acid alone = uridine monophosphate synthetase (delayed growth, megaloblastic anemia)

49
Q

Aromatase inhibitors

A

Anastrozole
Letrozole
Exemestane

Aromatase ALE

50
Q

Testosterone vs DHT for sexual development

A

T: internal genitals, spermatogenesis, differentiation at puberty

DHT: external genitals, prostate growth, amplifies T effects

51
Q

5alpha reductase deficiency

A

Often raised as girls until puberty when T kicks in

Genitals can range from small with hypospadus to borderline female

52
Q

Incretin effect

Agents that act like incretin

A

Larger spike in insulin due to oral glucose over IV

GLP-1 and gastric inhibitory peptide (GIP) are hormones with incretin effects

STEP 1 (11 decks)

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