4/28 - UWorld Flashcards

1
Q

Enzymes of the TCA cycle that use B3 (NAD+)

A

Pyruvate dehydrogenase (pyruvate to acetyl CoA)

Isocitrate dehydrogenase (isocitrate to a-ketoglutarate)

Alpha-ketoglutarate dehydrogenase (a-ketoglutarate to succinyl CoA)

Malate dehydrogenase (malate to oxaloacetate )

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
2
Q

Enzymes of the TCA cycle that use B2 (FAD)

A

Succinate dehydrogenase (succinate to fumarate)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
3
Q

What are the 2 enzyme deficiencies that may cause galactosemia, and which deficiency is more severe?

A

Galactokinase (Galactose -> galactose-1-P)

Uridyl transferase (Galactose-1-P –> Glucose-1-P) . . . More severe

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
4
Q

Presentation of Galactosemia

A

Mild form (galactokinase deficiency) - infantile cataracts

Severe form (Uridyl transferase deficiency) - cataracts, jaundice, hepatomegaly, lethargy, intellectual disabilities)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
5
Q

Enzyme deficiency in sideroblastic anemia

A

ALA synthase

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
6
Q

Affected enzymes in lead poisoning

A

Ferrochelatase and ALA dehydratase

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
7
Q

Affected enzyme, presentation, and treatment of acute intermittent porphyria

A

Porphobilinogen deaminase

Symptoms – 5 P’s

Painful abdomen, Port wine colored urine (due to increase PGB), Polyneuropathy, Psychological disturbances, Precipitated by drugs (CYP450 inducers), alcohol, and starvation

Treatment: Glucose + heme = inhibition of ALA synthase

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
8
Q

Affected enzyme and presentation of porphyria cutanea tarda

A

Deficiency of Uroporphyrinogen carboxylase

Symptoms - Blistering cutaneous photosensitivity and hyperpigmentation

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
9
Q

What substance is responsible for inhibition of carnitine acyl transferase, thus inhibiting beta oxidation?

A

Malonyl CoA - in order to inhibit the breakdown of newly synthesized fatty acids

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
10
Q

What are causes of homocysteinuria?

A

Homocysteine can be converted to methionine via methionine synthase + B12 or to cystathionine via cystathionine synthase B6

Homocysteinuria caused by deficiency in cystathionine synthase, decreased affinity of cystathionine synthase for B6, or methionine synthase

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
11
Q

Presentation of homocysteinuria

A

Homocystine is a prothrombotic, which may lead to prematyre acute coronary syndrome

Homocysteine in urine

Marfanoid habitus

Ocular changes (downward and inward lens subluxation – vs. Marfan which is upward)

Kyphosis

Intellectual disability

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
12
Q

Cause of cysteinuria

A

Defect in COLA transporter of proximal convoluted tubule (cystein, ornithine, lysine, arginine)

Can lead to hexagonal cysteine stones

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
13
Q

Which lymph nodes does the skin drain to?

A

Above the umbilicus - Axillary

Below the umbilicus - Superficial inguinal

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
14
Q

What lymph node does the rectum drain to?

A

Upper rectum - inferior mesenteric

Lower rectum - internal iliac

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
15
Q

What lymph node does the anal canal drain to?

A

Above the pectinate line - internal iliac

Below the pectinate line - superficial inguinal

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
16
Q

What lymph node does the scrotum drain to?

A

Superficial inguinal

17
Q

What lymph nodes do the testes drain to?

A

Para-aortic

18
Q

What lymph node does the uterus drain to?

A

Para-aortic

19
Q

What lymph node does the vagina drain to?

A

Internal iliac

20
Q

Which HLA genes encode for MHC class I and MHC class II

A

MHC I - HLA-A, HLA-B, HLA-C

MHC II - HLA-DP, HLA-DQ, HLA-DR

21
Q

What disease is associated with HLA-B27

A

Seronegative arthropathies - PAIR

Psoriatic arthritis, ankylosing spondylitis, irrititable bowel disease, reactive arthritis (Reiter)

22
Q

What HLA genes are associated with DM type I

A

HLA-DR3 and HLA-DR4

23
Q

How do NK cells work?

A

Use perforin and granzymes to induce apoptosis

Part of innate immune system because they do not need MHC to be activated

24
Q

What cytokines enhance NK cells?

A

IL-2, IL-12, IFN-a, IFN-b

25
Q

What are the surface markers of NK cells?

A

CD16, CD56

CD16 binds to the constant (Fc) region of antibodies - helps to recognize and kill IgG-coated cells via antibody-dependent cell-mediated cytotoxicity (ADCC)

26
Q

What cytokines cause differentation into Th1 cells and what cytokines do Th1 Cells produce?

A

IL-12 from macrophages causes differentiation

Th1 cells produce IL-2 and IFN-y

27
Q

What cytokines cause differentation into Th2 cells and what cytokines do Th2 Cells produce?

A

Differentiation via IL-4

Produces IL-4, IL-5, and IL-10

28
Q

What is the process of activation of T-cells

A

1st signal - MHC + antigen on APC binds to TCR on T-cells

2nd signal - B7 (CD80/86) binds to CD28 on T-cells

29
Q

Describe the activation process of B-cells

A

Endocytosis of antigen by B-cell

(1st signal) Antigen presented to T-cell via MHC II

(2nd signal) CD40 on B-cells binds to CD40L on Th cells

Th2 cells generate IL-4 and IL-5 for B class switching

30
Q

Surface markers of B-cells

A

CD19, CD20, CD21, IgM, IgD