SBM Flashcards

1
Q

whats on a liver screen

A
  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
  1. a-1 antitrypsin
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2
Q

endogenous and exogenous pathways

A

draw

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3
Q

lipoprotein lipase vs hepatic lipase

A

LL: peripheries and muscle
- VLDL, chylomicrons

HL: liver, adrenal
- IDL, HDL, LDL

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4
Q

familial hypercholesterolaemia genetics

A

autosomal dominant

- LDLR, APOB, PCSK9

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5
Q

metabolic syndrome (5)

A
insulin resistance
visceral obesity
^TG
HTN
low HDL

kind of

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6
Q

stones treatment

A

K citrate for RTA and low urine citrate

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7
Q

amino acid disorders

A

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

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8
Q

carbohydrate disorders

A

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)

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9
Q

organic acid disorders

A

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

maple syrup urine disease

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10
Q

lysosome storage disorders

A
  • lipid storage disorders
  • neuroregression

treatment: enzyme replacement, liver transplant

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11
Q

mitochondrial disorders

A

brain, eye, heart, muscle problems
die young

pronuclear transfer pre implant

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12
Q

peroxisomal disorders

A
  • acculation VLCFA (adrenal glands and peripheral nerves)

treat: diet, marrow transplant

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13
Q

nephritic and nephrotic

A

draw the treee

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14
Q

4 phases of AKI

A

onset
oliguric
diuretic
recovery

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15
Q

type A VS B DHR

A

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)

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16
Q

drug test for anaphylaxis

A

tryptase

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17
Q

molecule on staph aureus for virulence

A

coagulase

18
Q

anaphylaxis treatment

A
  1. adrenaline

2. oxygen, IV hydrocortisone, chlorpenamine, fluids

19
Q

CLL cells

A

CD5+, CD19+

20
Q

CLL therapy: 3x3

A
  1. chemotherapy
    - fludarabine
    - bendamustine
    - cyclophosphamide
  2. targeted therapy
    - ibrutinib
    - idelalisib
    - veneteclax
  3. targeted ab (CD20)
    - rituximab
    - ofatumumab
    - obinutuzumab
21
Q

measures of CLL prognosis

A

LDT

IGHV mutation status (germline

22
Q

chemical that helps apoptosis

A

caspases

23
Q

pro-apoptotic gene vs antiapoptotic

A

p-53, bcl-2

24
Q

maintains telomere length

A

telomerase

25
Q

EGFR encoded by

A

ERBb1, mutation leads to activation without EGF

26
Q

Ras

A

loss of GTP-ase&raquo_space; always on. 30% ca

27
Q

syndrome caused by inherited p53 mutation

A

le fraumeni syndrome

28
Q

gene for retinoblastoma

A

Rb

29
Q

drug for BrCa1/2 mutations and class

A

cisplatin, PARPi

30
Q

AML genetics

A

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

31
Q

AML treatment

A

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

32
Q

polycythaemia

thrombocythaemia

A

RBC

plateltes

33
Q

__ promotes neurophil ^

A

G-CSF, injected pre transplant

34
Q

AML signalling

A

JAK-2 via JAK-STAT pathway lead to polycythaemia vera, thrombocythaemia, 1” myelofibrosis&raquo_space; AML

35
Q

abx for neutropenic sepsis

A

tazocin + gent

36
Q

lynch syndrome is autosomal ___

A

dominannt

37
Q

erbb1 code for

A

EGFR (onc)

38
Q

erbb2 code for

A

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

39
Q

ras

A

loss of GTP-ase&raquo_space; ras bound constantly (onc)

40
Q

BrCa1/2

A

TS. double strand breaks. cisplatin PARPi