Scenario 34

Question 1

What are the symptoms of psoriasis?

Answer 1

Itchiness, cracked skin, pain, pitted nails, arthritis, social isolation

Question 2

What are the triggers of psoriasis?

Answer 2

Infection, skin trauma, psychological stress, drugs, sunburn, metabolic factors (calcium deficiency), hormonal factors (pregnancy), skin antigens leading to impaired differentiation and proliferation of keratinocytes

Question 3

What are the two types of IBD?

Answer 3

Ulcerative colitis and Crohns disease

Question 4

What are the symptoms of UC?

Answer 4

continuous Inflammation and ulcers but only in the colon. Superficial inflammation, risk of cancer

Question 5

What are the symptoms of crohns disease?

Answer 5

Patchy inflammation of all layers of the whole GI tract, fistulas and strictures, risk of cancer

Question 6

What other inflammatory conditions are there?

Answer 6

Joints- arthritis, skin-erythema nodosum, eye-iridocyclitis, liver–cholostatic liver diseases

Question 7

What are the symptoms of SLE?

Answer 7

malar rash, sicoid lesions, oral ucers, photosensitivity, non deforming arthritis, proteinuria, seizures, psychosis

Question 8

What are the risk factors for SLE?

Answer 8

oestrogen, pregnancy, infections, UV light, stress, drug induced

Question 9

What are the risk factors for Crohns?

Answer 9

smokers, low fibre, high refined sugar, diet, bacterial

Question 10

What are the risk factors for UC?

Answer 10

non smokers, appendicectomy

Question 11

What is the process of immune dysregulation in AIDs?

Answer 11

Breakdown tolerance and self antigen attacked by auto reactive lymphocytes, defects in lymphocyte activation (innate immune system), increased leukocyte infiltration, increased cytokine production, production of autoantibodies

Question 12

What treatments are available?

Answer 12

Non selective immunosuppression, cytotoxic drugs, biologicals (expensive, some patients dont respond, severe side effects)

Question 13

What is GWAS?

Answer 13

Examination of many common genetic variants in different individuals to see if any variant is associated with a trait

Question 14

What % of the genome codes for proteins?

Answer 14

1.5%

Question 15

What is a polymorphism?

Answer 15

a change in instructions not associated with the disease (may have a minor affect on protein function)

Question 16

Why could somatic mutations cause cancer?

Answer 16

May cause cell death, damage non coding or inactive DNA, damage gene causing cell death (limited consequences), could inactivate a tumour suppressor gene, activate oncogenes or create a new fusion gene

Question 17

What is bevacizumab?

Answer 17

A monoclonal antibody used in glioblastoma which binds to VEGF, reduces blood vessel formation starving the tumour of oxygen and nutrients

Question 18

What is imantinib?

Answer 18

CML, blocks tyrosine kinase activity

Question 19

What are DNA damage response/repair genes

Answer 19

Constantly repairing DNA, cancer arrives due to the accumulations of mutations across the genome eg BRCA 1/2

Question 20

What are the main features in a DNA repair mechanism defect?

Answer 20

young age of onset, multiple primary cancers in same person, same type of cancer in several relatives or recognisable pattern of cancers in family

Question 21

What is lynch syndrome?

Answer 21

When 2 bases dotn match the MSH2 and 1 proteins recognise this and separate the strands for a new one to be made. Lots of proteins involved that can be mutated

Question 22

What cancers are caused by lynch syndrome?

Answer 22

Colorectal, endometrial, ovarian , renal. brain, gastri

Question 23

What is the Amsterdam criteria?

Answer 23

Used to identify families likely to have lynch syndrome

3 or more relatives with lynch related cancer, 2 generations, 1

Question 24

What is the Bethesda criteria?

Answer 24

Used to trigger further investigation

Question 25

What is the management of lynch syndrome?

Answer 25

colonoscopy from 25 yr at 2 year intervals, discussion of hysterectomy and bilateral salpingo-oophorectomy from 45 years, daily asprin and symptom awareness

Question 26

What are the risks for a women with a BRCA mutation?

Answer 26

High risk of breast and ovarian cancer (60%) need screening and consider removal and may take prophylactic tamoxifen

Question 27

What are the risks for a man with a BRCA mutation?

Answer 27

Increased risk of breast and prostate cancer (10-20%), children and siblings 50% risk of mutation

Question 28

What are pharmacogenetics?

Answer 28

The study of how a patients drug response depends on their genetic make up

Question 29

How many drugs in the UK currently require genetic testing?

Answer 29

8

Question 30

What is Abacavir and why is genetic testing essential?

Answer 30

Reverse transcriptase inhibitor used to treat HIV and AIDS but in 5% of patients sever ADR associated with HLA-B*5701 and now cheap to do a test

Question 31

What is azathioprine and should genetic testing be essential?

Answer 31

Induces T cell apoptosis, used in various conditions that require a reduction in immune response. In homozygotes of TMPT enzyme can cause the drug to not be metabolised- fatal toxicity.

Question 32

Should there be genetic testing for warfarin?

Answer 32

Therapeutic dose is highly variable and can trigger hemorrhage if too high and stroke if too low. Polymorphisms in VKORC1 and CYP2C9 influence dose