ID/Genetics/Haem

Question 1

What is the pattern of X-linked dominant inheritance?

Answer 1

No male to male transmission
All daughters of a male who has the trait will also have the trait
Sons can have the trait only if their mothers have the trait

Question 2

What is Burkitt’s lymphoma?

Answer 2

High grade B cell non-Hodgkin’s lymphoma - rapidly growing and aggressive

Question 3

What are the types of Burkitt’s lymphoma?

Answer 3

Endemic - most common in children and associated with EBV and malaria
Sporadic
Immunodeficiency related

Question 4

How do you treat cryptosporidiosis?

Answer 4

Nitazoxanide in immune competent
Resorting CD4 count above 100 in immune deficient people

Question 5

In which conditions would you have a positive anticardiolipin antibody?

Answer 5

Antiphospholipid syndrome
SLE
Idiopathic thrombocytopaenic purpura
RA
Psoriatic arthritis
Sjogren’s syndrome

Question 6

What is a TRALI?

Answer 6

Non cardiogenic pulmonary oedema in the first 6 hours of transfusion

Question 7

What is cystic fibrosis?

Answer 7

An autosomal recessive disease caused by mutations in the delta F508 gene on chromosome 7

Question 8

Give some examples of type V hypersensitivity reactions

Answer 8

Tumour rejection
Defence against parasites

Question 9

Which neurological condition is associated with Down’s syndrome?

Answer 9

Alzheimer’s disease

Question 10

What is influenza caused by?

Answer 10

Orthomyxovirus (RNA)

Question 11

What are viral warts caused by?

Answer 11

Papovavirus (DNA virus)

Question 12

Explain the pathophysiology of PND

Answer 12

Mutation in haematopoetic stem cells in an X linked gene resulting in a deficiency in GPI protein

CD55 and CD99 are proteins responsible for deactivating complement

There is therefore chronic completment mediated destruction of red cells

Question 13

Name some X linked recessive conditions

Answer 13

Red-green colour blindness
Duchenne’s MD
Becker’s MD
G6PD deficiency
Haemophilia A
Haemophilia B
Alport syndrome

Question 14

What is SCID?

Answer 14

A life threatening syndrome of recurrent infections, diarrhoea, dermatitis and failure to thrive

Question 15

What is selective IgA deficiency?

Answer 15

A relatively mild immunodeficiency resulting in increased infections, especially of the respiratory and digestive tract

Question 16

Which biomarker is used to predict prognosis in MM?

Answer 16

B2 microglobulin

Question 17

What is the inheritance pattern of Fragile X syndrome?

Answer 17

X-linked dominant

Question 18

Name some physical features associated with Fragile X syndrome

Answer 18

High forehead
Large testes
Facial asymmetry

Question 19

What is Hartnup disease?

Answer 19

Autosomal recessive disorder causing defective renal & intestinal absorption of amino acids

Question 20

Which chromosomal translocation is implicated in Burkitts lymphoma?

Answer 20

T(8;14)

Question 21

Name some stressors for G6PD deficiency?

Answer 21

Viral and bacterial infections
Drugs - sulfa drugs, quinines
Fava beans

Question 22

What is the most commonly inherited disease in white populations?

Answer 22

CF

Question 23

What are the types of allergic rhinitis?

Answer 23

Seasonal
Perennial
Occupational

Question 24

Where are IgD antibodies expressed?

Answer 24

Plasma membranes of immature B lymphocytes

Question 25

When does classical typhoid fever typically begin?

Answer 25

7-10 days following ingestion of bacteria

Question 26

In which condition is hyposensitisation proven?

Answer 26

Wasp venom allergy

Question 27

What is pica?

Answer 27

A disorder characterised by a compulsive desire to eat items of no nutritional value

Question 28

Name some causes of a microcytic anaemia

Answer 28

Thalassaemia
Pica
Sideroblastic anaemia
Iron deficiency

Question 29

At what age to patients typically present with signs and symptoms of SCID?

Answer 29

Before 3 months

Question 30

What is SCID?

Answer 30

A syndrome characterised by recurrent infections, dermatitis, diarrhoea and failure to thrive

Question 31

What can myelodysplasia progress to?

Answer 31

AML in 30% of cases

Question 32

What is homocystinuria?

Answer 32

Autosomal recessive deficiency of cystathionine beta synthase which breaks down homocysteine to cystathionine

Accumulation of homocysteine leads to a multi-system disorder of the CNS, musculoskeletal and cardiovascular systems

Question 33

Which type of blood product has the highest risk of contamination?

Answer 33

Platelets

Question 34

What is the typical age of presentation for CML?

Answer 34

60-70 years

Question 35

What is the first line treatment for CML?

Answer 35

Imatinib (tyrosine kinase inhibitor)

Question 36

What is the typical DIC blood picture?

Answer 36

↓ platelets
↓ fibrinogen
↑ PT & APTT
↑ fibrinogen degradation products

Question 37

What is Evan’s syndrome?

Answer 37

ITP in association with autoimmune haemolytic anaemia (AIHA)

Question 38

Name some causes of massive splenomegaly

Answer 38

Myelofibrosis
Chronic myeloid leukaemia
Visceral leishmaniasis (kala-azar)
Malaria
Gaucher’s syndrome

Question 39

How do you manage an acute sickle cell crisis?

Answer 39

analgesia e.g. opiates
rehydrate
oxygen
consider antibiotics if evidence of infection
blood transfusion
indications include: severe or symptomatic anaemia, pregnancy, pre-operative
do not rapidly reduce the percentage of Hb S containing cells
exchange transfusion
indications include: acute vaso-occlusive crisis (stroke, acute chest syndrome, multiorgan failure, splenic sequestration crisis
rapidly reduce the percentage of Hb S containing cells

Question 40

Name some treatment options for latent TB

Answer 40

3 months of isoniazid (with pyridoxine) and rifampicin, or
6 months of isoniazid (with pyridoxine)