Pathology Flashcards
(202 cards)
Which clotting factors does heparin affect?
Prevents activation factors 2,9,10,11
Which clotting factors does warfarin affect?
Affects synthesis of factors 2,7,9,10
Which clotting factors does DIC affect?
Factors 1,2,5,8,11
which clotting factors does liver disease affect?
Factors 1,2,5,7,9,10,11
Blood clotting results in haemophilia?
APTT: increase
PT: N
Bleeding time: N
Blood clotting results in VWD?
APTT: increase
PT: N
Bleeding time: increased
Blood clotting results in Vit K deficiency?
APTT: increase
PT: increase
Bleeding time: N
What is a Paul Bunnell test for?
EBV
What are spur cells on blood film seen in association with?
liver disease and / or renal failure.
Symptoms of hereditary spherocytosis?
hyperbilirubinaemia, jaundice and splenomegaly
Major constituent of cryoprecipitate?
factor VIII
(also fibrinogen,VWF,factor XIII)
Best test to determine acute haemolytic transfusion reaction?
A Coomb’s test should confirm haemolysis.
Other tests for haemolysis include: unconjugated bilirubin, haptoglobin, serum and urine free haemoglobin.
what is an acute transfusion reaction?
signs or symptoms during or within 24 hours of a blood transfusion
Signs indicating non-immune mediated blood transfusion reaction?
Hypocalcaemia
CCF
Infections
Hyperkalaemia
Pattern of inheritance and gene for Li Fraumeni syndrome?
Autosomal dominant
germline mutations to p53 tumour suppressor gene
High incidence of malignancies particularly sarcomas and leukaemias
When is Li Fraumeni syndrome diagnosed?
*Individual develops sarcoma under 45 years
*First degree relative diagnosed with any cancer below age 45 years and another family member develops malignancy under 45 years or sarcoma at any age
What chromosomes are BRCA1/2 carried on?
Carried on chromosome 17 (BRCA 1) and Chromosome 13 (BRCA 2)
How are the BRCA genes linked with breast cancer/ovarian ?
breast: 60% increased chance
ovarian:55% with BRCA 1 and 25% with BRCA 2).
Inheritance pattern and effects of lynch syndrome?
Autosomal dominant
Develop colonic cancer and endometrial cancer at young age
80% of affected individuals will get colonic and/ or endometrial cancer
can use Amsterdam criteria
What is the Amsterda criteria?
For Lynch syndrome:
-Three or more family members with a confirmed diagnosis of colorectal cancer, one of whom is a first degree (parent, child, sibling) relative of the other two.
-Two successive affected generations.
-One or more colon cancers diagnosed under age 50 years.
-Familial adenomatous polyposis (FAP) has been excluded.
What is Gardners syndrome?
Autosomal dominant familial colorectal polyposis
Multiple colonic polyps
Extra colonic diseases of Gardners syndrome?
skull osteoma, thyroid cancer and epidermoid cysts
Desmoid tumours seen in 15%
What is the mutation in Gardners syndrome?
Mutation of APC gene located on chromosome 5
Management of Gardners syndrome?
colectomy to reduce risk of colorectal cancer
Now considered a variant of familial adenomatous polyposis coli