First AID General Principles

Question 1

Lesch-Nyhan

Answer 1

Question 2

Allopurinol and Febuxostat mechanism

Answer 2

Question 3

Golgi trafficking

Answer 3

Question 4

Kartagener Syndrome

Answer 4

Question 5

Collagen types

Answer 5

Question 6

McCune Albright syndrome

Answer 6

Question 7

Duchenne’s Muscular Dystrophy

Answer 7

Question 8

Myotonic dystrophy

Answer 8

Question 9

Fragile X syndrome

Answer 9

Question 10

The Autosomal Trisomies

Answer 10

Question 11

Pellagra

Answer 11

• Trifecta of diarrhea, dementia, and dermatitis
• Often preceded by glossitis
• May be caused by niacin (B3) deficiency, Hartnup disease (genetic), malignant carcinoid syndrome, and isoniazid.

Question 12

Zinc deficiency

Answer 12

Can’t heal, can’t fight, can’t shave, can’t smell

Delayed wound healing, immunodeficiency, loss of hair growth, anosmia

Question 13

Kwashiorkor vs Marasmus

Answer 13

Question 14

Ethanol metabolism

Answer 14

Question 15

Metabolism overview

Answer 15

Question 16

ATP production in various tissues

Answer 16

Question 17

Thiamine pyrophosphate is used for the donation of ___.

Answer 17

Thiamine pyrophosphate is used for the donation of aldehyde groups.

Question 18

S-adenosylmethionine is used for the donation of ____.

Answer 18

S-adenosylmethionine is used for the donation of methyl groups.

Question 19

Tetrahydrofolate is used for the donation of ____.

Answer 19

Tetrahydrofolate is used for the donation of single carbon units.

Question 20

Mnemonic for essential amino acids

Answer 20

Question 21

Maple syrup urine disease

Answer 21

Autosomal recessive

Question 22

Biochemistry of folate and b12 in DNA synthesis

Answer 22

Question 23

Glycogen storage diseases

Answer 23

Question 24

Lysosomal storage diseases

Answer 24

Question 25

Splenectomy considerations

Answer 25

* Higher risk of pneumococci, meningococci, Haemophilus influenzae, E. coli, Klebsiella pneumonia, Salmonella typhi * Blood findings of Holly-Jowell bodies, target cells, thrombocytosis, lymphocytosis * Immediate post-splenectomy portal vein thrombosis risk

Question 26

Complement is particularly important in defense against ___ species.

Answer 26

Complement is particularly important in defense against **encapsulated bacteria** (**"early complement"**, ie C1-C4) and **Neisseria** species (**"late complement"**, ie C5-C9 and the MAC).

Question 27

Main difference between immunity induced by live attenuated strains vs dead virus

Answer 27

Live attenuated strains produce both humoral and cell-mediated immunity Dead virus will only produce humoral immunity

Question 28

Live attenuated strains are contraindicated in patients with. . .

Answer 28

. . . CD4 count \<200 But, as long as CD4 \>200, even in patients with HIV, it is safe.

Question 29

Blood transfusion reactions

Answer 29

And don't forget TACO and TRALI too! Very different mechanisms.

Question 30

What is the most common primary immunodeficiency?

Answer 30

**Selective IgA deficiency** Majority Asymptomatic Can see **Airway and GI infections,** Autoimmune disease, **Atopy,** **Anaphylaxis to IgA-containing products**

Question 31

Ataxia telangiectasia

Answer 31

Occular telangiectasias are very common. Associated w/ cerebellar defects and multi-factorial immunodeficiency. Mutation in the ATM gene, a DNA repair regulator.

Question 32

Wiskott-Aldrich syndrome

Answer 32

Mutation in WAS gene; leukocytes and platelets unable to reorganize actin cytoskeleton Ž defective antigen presentation; X-linked recessive **WATER**: **W**iskott-**A**ldrich: **T**hrombocytopenia, **E**czema, **R**ecurrent (pyogenic) infections Increased risk of autoimmune disease and malignancy

Question 33

Diseases of phagocyte dysfunction

Answer 33

Question 34

If a patient has no functional B cells, they are at higher risk for. . .

Answer 34

* Groups: * ***Streptococci* species** * ***Neisseria* species** * ***Klebsiella* species** * ***Salmonella* species** * **Enteroviridae** * Individuals: * ***Pseudomonas aeruginosa*** * ***Haemophilus influenzae*** * ***Escherichia coli*** * ***Giardia intestinalis***

Question 35

If a patient has no functional granulocytes, they are at higher risk for. . .

Answer 35

* Groups: * ***Streptococci* species** * ***Nocardia* species** * ***Serratia* species** * **Opportunistic fungi** * Individuals: * **Pseudomonas aeruginosa** * **Burkholderia capacia**

Question 36

Types of transplant rejection

Answer 36

Question 37

In addition to increased risk for microbial infections, individuals with early completement deficiencies are at elevated risk for \_\_\_.

Answer 37

In addition to increased risk for microbial infections, individuals with early completement deficiencies are at elevated risk for **SLE.**

Question 38

What class of bacteria can produce spores?

Answer 38

Subsection of gram + only!

Question 39

Mnemonic for the organisms that don't fall well into gram stain conventions

Answer 39

**T**hese **L**ittle **M**icrobes **M**ay **U**nfortunately **L**ack **R**eal **C**olor **B**ut **A**re **E**verywhere * **T**reponema (too small) * **L**eptospira (too small) * **M**ycobacteria (special cell wall) * **M**ycoplasma (no cell wall) * **U**reaplasma (no cell wall) * **L**egionella (intracellular) * **R**ickettsia (intracellular) * **C**hlamydia (intracellular) * **B**artonella (intracellular) * **A**naplsma (intracellular) * **E**hrlicha (intracellular)

Question 40

Whipple's disease

Answer 40

* Visualize w/ PAS stain to diagnose * Infect macrophages * Treat w/ doxycycline and hydroxychloroquine for 1 year followed by doxycycline for life