haem

Question 1

important diagnosis to consider in an elderly person presenting with bone pain and a very raised ESR

Answer 1

Myeloma

Question 2

can present with headaches, deafness, and visual changes - potential complications of chronic myeloid leukaemia

Answer 2

hyperviscosity syndrome

Question 3

Mild thrombocytopenia - drug precipitant

Answer 3

quinine, quinidine, co-trim, vanc

Question 4

INR raised, what to do

Answer 4

INR 5.0–8.0, minor bleeding: stop warfarin sodium; give phytomenadione (vitamin K1) by slow intravenous injection; restart warfarin sodium when INR is less than 5.0
INR 5.0–8.0, no bleeding: withhold one or two doses of warfarin sodium and reduce subsequent maintenance dose

Question 5

initial management of low B12 without neurological symptoms

Answer 5

Hydroxocobalamin intramuscularly three times a week for 2 weeks

Question 6

definition of anaemia re Hb

Answer 6

130 g/L (men aged over 15)
120 g/L (women aged over 15 who are not pregnant, and children aged 12-14)
110 g/L (pregnant women in the first trimester)
105 g/L (pregnant women in the second or third trimesters)
100 g/L (postpartum)

Question 7

Which ONE of the following investigations is most likely to be abnormal in haemophilia A?

Answer 7

prolonged activated partial thromboplastin time.

Question 8

medications (x2) which are gastric causes of vitamin B12 deficiency

Answer 8

metformin and PPI

Question 9

duration of DOAC after PE no active cancer

Answer 9

3 months

Question 10

duration of DOAC after PE with active cancer

Answer 10

6 months

Question 11

alcohol-induced lymph node pain is very specific to

Answer 11

Hodgkin’s lymphoma

Question 12

mainstay management for monoclonal gammopathy of undetermined significance

Answer 12

Monitoring

Question 13

people at higher risk of DVT with a Wells score of ≥2 and a positive D-dimer result, a negative proximal leg vein ultrasound scan negative, next?

Answer 13

repeat US in 6-8 days

Question 14

prosthetic heart valve with tiredness

Answer 14

haemolitic anameia

Question 15

A drug which is given orally and licensed for prophylaxis of venous thromboembolism

Answer 15

dabigatran

Question 16

can be usedif aspirin and clopidogrel are contraindicated or not tolerated in ischaemic stroke.

Answer 16

Dipyridamole

Question 17

Benign ethnic neutropenia is MOST common in which ONE of the following ethnic groups?

Answer 17

Black African

Question 18

first-line test for iron deficiency anaemia

Answer 18

Ferritin

Question 19

Of the following genetic conditions causing learning disability, which is the SINGLE MOST likely to be associated with an increased risk of hepatitis B carrier status

Answer 19

Down’s syndrome

Question 20

genetic condition where successive generations are severely affected

Answer 20

Huntington’s disease

Question 21

genetic disoreder associated with cardiomyopathy x2

Answer 21

Huntington’s disease

Question 22

haemophilia is what form inheritance

Answer 22

x-linked recessive

Question 23

Simon Broome criteria for FH include

Answer 23

age, Total cholesterol, LDL-C, tendon xanthoma, DNA, family history of prevmature CVD and high cholesterol

Question 24

commonly asked question - not associated witgh learning disability

Answer 24

Marfan

Question 25

characterised by gastrointestinal polyps in association with pigmentation affecting skin and mucous membranes

Answer 25

peutz–Jeghers syndrome

Question 26

45XO is Turner’s syndrome. Girls with this have x3

Answer 26

OSTEOPOROSIS, primary amenorrhoea, infertile

Question 27

In an affected family, each pregnancy has a 50% chance of an affected child. This condition features neurological symptoms and skin lesions.

Answer 27

Tuberous sclerosis

Question 28

In an affected family, each pregnancy has a 25% chance of a son with this condition or a carrier daughter. It can present with delayed walking usually in the first five years of life.

Answer 28

Duchenne muscular dystrophy

Question 29

In an affected family, each pregnancy has a 25% chance of an affected child. There is a progressive gait problem, loss of proprioception, pyramidal weakness and dysarthria. The onset is in adolescence.

Answer 29

Friedreich’s ataxia

Question 30

In addition to breast cancer, BRCA 1/2 gene mutations are MOST LIKELY to be associated with which one of the following malignancies?

Answer 30

Ovary, prostate, panccreas

Question 31

which is more common, x-linked dom disorders or sex linked recessicv

Answer 31

sex linked recessive

Question 32

A nine-month-old girl was born by spontaneous vaginal delivery (SVD) at term weighing 3.5 kg. She appeared normal apart from having a port wine stain. She has grown normally; but has only recently started to squeal and turn to her mother’s voice. She now presents with a tonic-clonic seizure, with no evidence of fever or infection.

Answer 32

Sturge–Weber syndrome

Question 33

head has been disproportionately large, with an occipitofrontal circumference (OFC) above the 90th centile. He was slow to walk and to talk, and his mother has brought him because of concern that he is hyperactive and makes very little eye contact. His mother’s sister has a history of learning disability.

Answer 33

Fragile X syndrome

Question 34

neonatla hypotonia, mildly dysmorphic facial features, his testes are not palpable, and his genitalia are unusually small.

Answer 34

Prader–Willi syndrome

Question 35

Direct microscopic visualisation of the chromosomes is also known as?

Answer 35

Karyotyping

Question 36

common endocirine disorder for patients with turner syndrome

Answer 36

hypothyroidism

Question 37

Frontotemporal dementia is part of a clinical spectrum and genetically associated with which other neurological disorder?

Answer 37

Motor neurone disease

Question 38

if neither set of grandparents had the condition, but both sets of grandparents produced children with the condition, it is likely that the condition is inherited

Answer 38

autosomal recessive fashion

Question 39

Pattern of inheritance: Cystic fibrosis

Answer 39

autosomal recessive

Question 40

Pattern of inheritance: Alpha 1- antitrypsin deficiency

Answer 40

autosomal codominant pattern

Question 41

Pattern of inheritance: Familial combined hyperlipidaemia

Answer 41

autosomal dominant

Question 42

Pattern of inheritance: Duchenne's muscular dystrophy

Answer 42

X-linked recessive

Question 43

Pattern of inheritance: Huntington's disease

Answer 43

autosomal dominant

Question 44

Pattern of inheritance: Sickle cell anaemia

Answer 44

autosomal recessive

Question 45

Pattern of inheritance: haemophilia

Answer 45

X-linked recessive

Question 46

Pattern of inheritance: g6pd

Answer 46

X-linked recessive

Question 47

Pattern of inheritance: Thalassaemia

Answer 47

autosomal recessive

Question 48

most likely to be associated with polycystic kidney disease

Answer 48

Intracranial berry aneursysm

Question 49

most common muscular dystrophy and is the most likely diagnosis. It is characterised by myotonia and muscular atrophy.

Answer 49

Myotonic dystrophy

Question 50

Which GENE has been shown to influence the development of Alzheimer’s disease?

Answer 50

ApoE4

Question 51

predisposition to lower and upper respiratory infections including sinusitis and otitis media

Answer 51

Primary ciliary dyskinesia

Question 52

In autosomal dominant conditions there is a ?% chance of the offspring inheriting the condition if only one parent is affected.

Answer 52

0.5

Question 53

Pattern of inheritance: Familial Hypercholesterolaemia

Answer 53

autosomal dominant

Question 54

Pattern of inheritance: Marfan Syndrome

Answer 54

autosomal dominant

Question 55

Pattern of inheritance: Myotonic Dystrophy

Answer 55

autosomal dominant

Question 56

Pattern of inheritance: Adult Polycystic Kidney Disease

Answer 56

autosomal dominant

Question 57

Pattern of inheritance: Neurofibromatosis Type 1

Answer 57

autosomal dominant

Question 58

Pattern of inheritance: PKU

Answer 58

autosomal recessive

Question 59

Pattern of inheritance: tay sachs

Answer 59

autosomal recessive