22

Question 1

Holosystolic murmur heard best at left lower sternal border could be what two things?

Answer 1

• VSD
• tricuspid regurgitation

*choose VSD in baby; TR in IV drug user

Question 2

High pitched diastolic murmur causing a widened pulse pressure?

Answer 2

Aortic regurgitation; remember. Widened pulse pressure = head bobbing

Question 3

Two murmurs that are described as “crescendo–decrescendo”

Answer 3

Aortic stenosis & pulm stenosis

Question 4

Continuous machine like murmur

Answer 4

PDA

Question 5

Cinchonism.
What is it?
What drug causes it?

Answer 5

Deafness, tinnitus

Caused by quinidine; binds Na receptors in the hair cells of the ear.

Question 6

What stain would you use to diagnose each of the following?

1. Cryptococcus
2. PCP
3. Chlamydia

Answer 6

1. Cryptococcus- India ink
2. PCP- silver stain
3. Chlamydia- Giemsa stain

Question 7

DiGeorge:
What two things are missing in the fetus?
What three things are missing in the adult?
What other malformation may be Assc with digeorge?

Answer 7

• No branchial Pouches 3,4 –> -No thymus, T cells, or PT gland
• may be Assc with truncus arteriosus/ tet due to possible 22q11 deletion

Question 8

Chovstek and Trousseau signs

Answer 8

Chovstek- “C for Cheek” tap on cheek, watch face contract
Trousseau-tighten BP cup –> carpofetal spasm

** both due to hypocalcemia/ tetany if ++

Sense in the case of digeorge due to absent PT gland

Question 9

Chronic mucocandidiasis:
Lack of what cells?
Typical infection seen?
Treatment?

Answer 9

T cell dysfunction, c albicans infection, give ketoconazole

Question 10

Bruton Agammaglobulinemia
Inheritance pattern/ Assc gene
Sign?

Answer 10

X linked –> only boys. Brutton is a little Boy

Get loss of all Ig’s –> bacterial infections at 6 months when moms Ig’s are all gone.

Question 11

IL-12R deficiency result?

Answer 11

T cells cannot be activated! –> mycobacterial/fungal infxn

Question 12

Sign of selective IgA deficiency

Answer 12

Recurrent sinus infections and lung infections

^^chance of allergies and asthma

Question 13

SCID:
Most common defect? What is the function of this gene?
Signs? CXR finding?

Answer 13

Adenosine deaminase deficiency– part of PURINE SALVAGE = a deficiency in both B + T cells

Early infections of all types, diarrhea and LOSS OF THYMIC SHADDOW!
(Don’t confuse this with digeorge. Digeorge is only T cell.)

Question 14

Ataxia telangiectasia
What is the deficiency?
What are the signs?
When do these kids die?

Answer 14

The deficiencies are IN THE NAME!!! A-T= missing IgA/T cells.

So are the signs….
ATAXIA= signs
ataxia, telangiectasia, acute leukemias, Xray sensitive, IgA related infections, AFP increased by 8 months

Kids die by 25.

Question 15

Wiskott Aldridge

• gene defect
• deficiency
• signs

Answer 15

X linked = boys. Little wiskott has a Weiner. Cause he’s a boy.
No IgM/IgA ^^^

Signs = WAITER, little wiskott wants to be a waiter when he grows up.
WA-wiskott Aldridge I- immunodeficiency T-thrombocytopenia
E-eczema R- recurrent pyogenic infections

Question 16

Two possible causes for hyperIgM syndrome

Answer 16

Lack of CD40 on B cells (AR)
Lack of CD40L on T cells (X)

Both result in the inability to CLASS SWTICH! (CD40-CD40L doesn’t happen)= only IgM present

Question 17

Chronic granulomatous disease
Inheritance pattern/ defect
Test used to Dx
Typical infections

Answer 17

X linked lack of NADPH oXidase
Cannot kill catalase + organisms =staph/aspergillosis infxn
Test = nitrotetrazoluem blue (no yellow –> blue when staining)

Question 18

Chediak Higashi

• defect
• histo findings
• signs

Answer 18

Lysosomal transport defect
See cytoplasmic granules in PMB
Signs: albinos, neuro deficits, infections

Question 19

Hyper IgE syndrome

• Defect
• signs

Answer 19

• Th17 cells lost; neutrophil recruitment lost
• ^ IgE and eosinophils for no known reason
• IgE for Eczema
• no neutros = COLD abscesses/boils like Job in bible
• course facial features and TWO ROWS OF TEETH.

Job has all kinds of boils and two rows of teeth like a shark. Job is awesome. Be like Job.

Question 20

Leukocyte Adhesion deficiency

1. Defect
2. Biggest sign/earliest sign

Answer 20

Abnormal integrins = phagocytes cannot leave circulation

Delayed umbilical circulation

Question 21

Four IDs that can be X linked?

Answer 21

“watch” (= WACH)

1. Little WISKOTT has a WEINER
2. BRUTON is a little BOY
3. CGD: NAPH oXidase deficiency
4. IgM can be for MEN. (In CD40L type)

Question 22

Late diastolic murmur with opening snap

Answer 22

Mitral stenosis

*remember: MVP is opening click during SYSTOLE.