General: Buzzwords and quickfire

Question 1

Adenylate kinase 2. What disease?

Answer 1

Reticular dysgenesis (Immune deficiency)

Question 2

Gamma chain of Il-2R. What disease?

Answer 2

X-linked SCID (Immune deficiency)

Question 3

22q11.2 deletion. What disease?

Answer 3

DiGeorge syndrome. (Immune deficiency).

Question 4

Defect of regulatory factor X or Class II Transactivator. What disease?

(Clue, its relating to MHC)

Answer 4

Bare Lymphocyte Syndrome. (Immune deficiency).

Question 5

Il-12R or IFNgamma deficiency. Leads to a susceptibility to…?

Answer 5

Susceptibility to TB, atypical mycobacteria, BCG, salmonella.

Question 6

Defective tyrosine kinase gene. Example?

Answer 6

Bruton’s X-linked hypogammaglobulinaemia. (Immune deficiency).

Question 7

Mutation in CD40-L. What condition?

Answer 7

Hyper-IgM snydrome. (Immune deficiency)

Question 8

Cause of a tear drop cell (Example).

Answer 8

Iron deficiency

Question 9

Causes of basophilic stippling?

Answer 9

Beta thalassaemia trait,

lead poisoning,

alcoholism,

sideroblastic anaemia

Question 10

Causes of hypersegmented neutrophils?

Answer 10

• B12 deficiency
• Folate deficiency
• Drugs

Question 11

Causes of target cells or codocytes?

Answer 11

Iron deficiency

• Thalassaemia
• Hyposplenism
• Liver disease

Question 12

Howell Jolly bodies. Associated with?

Answer 12

Hyposplenism

Question 13

Scalloping on biopsy potentailly suggests?

Answer 13

-Coeliacs disease

Question 14

5 y/o recurrent infections since birth. Increased irritability + neutrophils 350/uL + normal NBT test.

Answer 14

Kostmann syndrome

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A rare, severe, congenital neutropenia disorder characterized by a lack of mature neutrophils

Question 15

4 /o recurrent chest infections + reduced B-cell count + low IgA, igM and IgG levels

Answer 15

Bruton’s X-linked agammaglobulinaemia

Question 16

3 y/o + recurrent mild chest infections + cleft lip + reduced T-cell count + hypocalcaemia

Answer 16

DiGeorge syndrome

Question 17

4 y/o + recurrent chest infections + history of eczema + recurrent nose bleeds + reduced IgM + raised IgA and IgE

Answer 17

Wiskott-Aldrich syndrome

Question 18

Negative NBT test

Answer 18

Chronic Granulomatous

Question 19

Rheumatoid arthritis + deceased WBC + splenomegaly + recurrent infections

Answer 19

Felty’s syndrome

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Trifecta of

Rheumatoid arthritis + deceased WBC + splenomegaly

Question 20

saddle shaped nose, c-ANCA

Answer 20

Granulomatosis with polyangitis (GPA, formerly known as Wegener’s granulomatosis)

Question 21

Responds only to voice or pain/ unresponsive

Acute confusional state

Systolic B.P <= 90 mmHg (or drop >40 from normal)

Heart rate > 130 per minute

Respiratory rate >= 25 per minute

Needs oxygen to keep SpO2 >=92%

Non-blanching rash, mottled/ ashen/ cyanotic

Not passed urine in last 18 h/ UO < 0.5 ml/kg/hr

Lactate >=2 mmol/l

Recent chemotherapy

What do all these point towards/ Are red flags for?

Answer 21

Sepsis

Question 22

Sepsis 6.

Answer 22

“3 in, 3 out”

1. Administer oxygen: Aim to keep saturations > 94% (88-92% if at risk of CO2 retention e.g. COPD)
2. Take blood cultures
3. Give broad spectrum antibiotics
4. Give intravenous fluid challenges: NICE recommend a bolus of 500ml crystalloid over less than 15 minutes
5. Measure serum lactate
6. Measure accurate hourly urine output

Question 23

air-conditioning systems or foreign holidays

Answer 23

Legionella pneumophilia

Question 24

Kidney biopsy reveals an accumilation of cells in the Bowman’s space. What is this called?

Answer 24

Glomerular crescents

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Can be due to Anti-GBM disease.