SBM

Question 1

whats on a liver screen

Answer 1

1. autoimmune screen
   ANA
   LKM (anti liver kidney microsomal ab)
   SMA
2. PBC
   AMA
3. haemachromatosis
   ferritin
4. Wilson’s
   copper, caeruloplasmin
5. USS

6. viral Hep:
A - IgM
B - surface antigen
C - antibody
E - IgG, IgM

7. a-1 antitrypsin

Question 2

endogenous and exogenous pathways

Answer 2

draw

Question 3

lipoprotein lipase vs hepatic lipase

Answer 3

LL: peripheries and muscle
- VLDL, chylomicrons

HL: liver, adrenal
- IDL, HDL, LDL

Question 4

familial hypercholesterolaemia genetics

Answer 4

autosomal dominant

- LDLR, APOB, PCSK9

Question 5

metabolic syndrome (5)

Answer 5

insulin resistance
visceral obesity
^TG
HTN
low HDL

kind of

Question 6

stones treatment

Answer 6

K citrate for RTA and low urine citrate

Question 7

amino acid disorders

Answer 7

cysteinuria > stones (transport)
phenylketonuria > ^phenylalanine, neuro problems. L-dopa, 5-HT (metabolic)
urea cycle defects (metabolic, ^NH3). reduce dietary protein, remove NH3, remove precursors, add intermediates, liver transplant

Question 8

carbohydrate disorders

Answer 8

GSD-1. glycogen storage disease. glucose-6-phosphatase deficiency (no gluconeogenesis, allopurinol for decreasing uric acid production, continuous feed)

galactosaemia (GALPUT-1 deficiency, jaundice, cataracts. galactose free diet)

Question 9

organic acid disorders

Answer 9

MCAD (cant mobilise FFA/ ketones when low BM. give cartinine, avoid fasting, slow release CHO, riboflavin)

maple syrup urine disease

Question 10

lysosome storage disorders

Answer 10

• lipid storage disorders
• neuroregression

treatment: enzyme replacement, liver transplant

Question 11

mitochondrial disorders

Answer 11

brain, eye, heart, muscle problems
die young

pronuclear transfer pre implant

Question 12

peroxisomal disorders

Answer 12

• acculation VLCFA (adrenal glands and peripheral nerves)

treat: diet, marrow transplant

Question 13

nephritic and nephrotic

Answer 13

draw the treee

Question 14

4 phases of AKI

Answer 14

onset
oliguric
diuretic
recovery

Question 15

type A VS B DHR

Answer 15

A:

• dose dependant
• predictable
• ^morbidity, low mortality
• related to pharmacology

B:

• non dose dependant
• independent of pharmacology
• unpredictable
• ^mortality
• resembles an immunological reaction
• may be IgE, or non-allergic DHR

(mast cell, T1 hypersensitivity)

Question 16

drug test for anaphylaxis

Answer 16

tryptase

Question 17

molecule on staph aureus for virulence

Answer 17

coagulase

Question 18

anaphylaxis treatment

Answer 18

1. adrenaline

2. oxygen, IV hydrocortisone, chlorpenamine, fluids

Question 19

CLL cells

Answer 19

CD5+, CD19+

Question 20

CLL therapy: 3x3

Answer 20

1. chemotherapy
   - fludarabine
   - bendamustine
   - cyclophosphamide
2. targeted therapy
   - ibrutinib
   - idelalisib
   - veneteclax
3. targeted ab (CD20)
   - rituximab
   - ofatumumab
   - obinutuzumab

Question 21

measures of CLL prognosis

Answer 21

LDT

IGHV mutation status (germline

Question 22

chemical that helps apoptosis

Answer 22

caspases

Question 23

pro-apoptotic gene vs antiapoptotic

Answer 23

p-53, bcl-2

Question 24

maintains telomere length

Answer 24

telomerase

Question 25

EGFR encoded by

Answer 25

ERBb1, mutation leads to activation without EGF

Question 26

Ras

Answer 26

loss of GTP-ase >> always on. 30% ca

Question 27

syndrome caused by inherited p53 mutation

Answer 27

le fraumeni syndrome

Question 28

gene for retinoblastoma

Answer 28

Rb

Question 29

drug for BrCa1/2 mutations and class

Answer 29

cisplatin, PARPi

Question 30

AML genetics

Answer 30

philichromosome 9, t9/22. forms bcr-abl oncogene. Treat imatinib

Question 31

AML treatment

Answer 31

imatinib. binds bcr-abl binding site so it cant be activated

Question 32

polycythaemia | thrombocythaemia

Answer 32

RBC | plateltes

Question 33

__ promotes neurophil ^

Answer 33

G-CSF, injected pre transplant

Question 34

AML signalling

Answer 34

JAK-2 via JAK-STAT pathway lead to polycythaemia vera, thrombocythaemia, 1" myelofibrosis >> AML

Question 35

abx for neutropenic sepsis

Answer 35

tazocin + gent

Question 36

lynch syndrome is autosomal ___

Answer 36

dominannt

Question 37

erbb1 code for

Answer 37

EGFR (onc)

Question 38

erbb2 code for

Answer 38

HER2 (brca, ^aggression and worse response to treatment) (onc). give Herceptin

Question 39

ras

Answer 39

loss of GTP-ase >> ras bound constantly (onc)

Question 40

BrCa1/2

Answer 40

TS. double strand breaks. cisplatin PARPi