Scenario 34 Flashcards
What are the symptoms of psoriasis?
Itchiness, cracked skin, pain, pitted nails, arthritis, social isolation
What are the triggers of psoriasis?
Infection, skin trauma, psychological stress, drugs, sunburn, metabolic factors (calcium deficiency), hormonal factors (pregnancy), skin antigens leading to impaired differentiation and proliferation of keratinocytes
What are the two types of IBD?
Ulcerative colitis and Crohns disease
What are the symptoms of UC?
continuous Inflammation and ulcers but only in the colon. Superficial inflammation, risk of cancer
What are the symptoms of crohns disease?
Patchy inflammation of all layers of the whole GI tract, fistulas and strictures, risk of cancer
What other inflammatory conditions are there?
Joints- arthritis, skin-erythema nodosum, eye-iridocyclitis, liver–cholostatic liver diseases
What are the symptoms of SLE?
malar rash, sicoid lesions, oral ucers, photosensitivity, non deforming arthritis, proteinuria, seizures, psychosis
What are the risk factors for SLE?
oestrogen, pregnancy, infections, UV light, stress, drug induced
What are the risk factors for Crohns?
smokers, low fibre, high refined sugar, diet, bacterial
What are the risk factors for UC?
non smokers, appendicectomy
What is the process of immune dysregulation in AIDs?
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
What treatments are available?
Non selective immunosuppression, cytotoxic drugs, biologicals (expensive, some patients dont respond, severe side effects)
What is GWAS?
Examination of many common genetic variants in different individuals to see if any variant is associated with a trait
What % of the genome codes for proteins?
1.5%
What is a polymorphism?
a change in instructions not associated with the disease (may have a minor affect on protein function)
Why could somatic mutations cause cancer?
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
What is bevacizumab?
A monoclonal antibody used in glioblastoma which binds to VEGF, reduces blood vessel formation starving the tumour of oxygen and nutrients
What is imantinib?
CML, blocks tyrosine kinase activity
What are DNA damage response/repair genes
Constantly repairing DNA, cancer arrives due to the accumulations of mutations across the genome eg BRCA 1/2
What are the main features in a DNA repair mechanism defect?
young age of onset, multiple primary cancers in same person, same type of cancer in several relatives or recognisable pattern of cancers in family
What is lynch syndrome?
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
What cancers are caused by lynch syndrome?
Colorectal, endometrial, ovarian , renal. brain, gastri
What is the Amsterdam criteria?
Used to identify families likely to have lynch syndrome
3 or more relatives with lynch related cancer, 2 generations, 1
What is the Bethesda criteria?
Used to trigger further investigation
What is the management of lynch syndrome?
colonoscopy from 25 yr at 2 year intervals, discussion of hysterectomy and bilateral salpingo-oophorectomy from 45 years, daily asprin and symptom awareness
What are the risks for a women with a BRCA mutation?
High risk of breast and ovarian cancer (60%) need screening and consider removal and may take prophylactic tamoxifen
What are the risks for a man with a BRCA mutation?
Increased risk of breast and prostate cancer (10-20%), children and siblings 50% risk of mutation
What are pharmacogenetics?
The study of how a patients drug response depends on their genetic make up
How many drugs in the UK currently require genetic testing?
8
What is Abacavir and why is genetic testing essential?
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
What is azathioprine and should genetic testing be essential?
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.
Should there be genetic testing for warfarin?
Therapeutic dose is highly variable and can trigger hemorrhage if too high and stroke if too low. Polymorphisms in VKORC1 and CYP2C9 influence dose
