blood, muscle and bone revision
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blood, muscle and bone revision
1. a 37 year old woman presents with a false positive test for syphilis. What concerns you?
2. a 54 year old woman with SLE dies of an unrelated cause. On autopsy, what do you expect to see in affected vessels?
3. a 60 year old woman presents with a heliotrope rash. What do you suspect?
4. a 61 year old woman presents with an asymmetric muscle weakness in distal muscles. Light microscopy shows t lymphocyte infiltration. What are you suspicious of?
this is a lot like polymyositis, but with asymmetric pattern and distal weakness, consider inclusion body myositis (much worse prognosis)
5. how is osteopetrosis characterised and what part of bone formation is defective?
increased density of cartilaginous bones (but brittle and prone to fracture). Defective osteoclasts.
6. in an infant, at what age is there a transient physiological agammaglobulinaemia of the neonate?
3-6 months. Maternal IgG disappears, neonatal IgM is the first to appear.
7. paget's disease of the bone is caused by a defect in which part of bone formation?
8. regarding amyloid, what is the difference between AA, AL and AB amyloid?
AA is synthesized in the liver, AL is immunoglobulin light chains and AB is associated with Alzheimer's.
9. what are blood and urine results in paget's disease?
serology (calcium and phosphate normal, increased ALP). Urine (increased hydroxyproline excretion).
10. what are the 3 most common causes of septic arthritis?
staph aureus, streptococci, haemophilus
11. what are the 4 causes of endocrine myopathy?
corticosteroid induced, hyperthyroid, hypothyroid, osteomalacia
12. What are the commonest 2 presynaptic abnormalities?
botulism and lambert-eaton myasthenic syndrome
13. what are the main 4 complications of paget's disease of the bone?
nerve compression, pathological fracture, cardiac hypertrophy, malignancy (osteosarcoma)
14. what are the symptoms of myotonic muscular dystrophy?
myotonia, muscle weakness, gonadal atrophy, cardiomyopathy
15. what chromosomal translocation is associated with ewing's sarcoma and where does it occur?
11:22 translocation, occurs in the femur.
16. what disease causes autoimmune destruction of melanocytes?
17. what does the tensilon test check for?
18. what gene is affected in osteogenesis imperfecta and what symptoms are noticeable?
type I collagen, signs are lax joint ligaments, blue sclera and hearing loss.
19. what histology is found in polymyositis?
cytotoxic t cells found in the muscle
20. what is the commonest bone tumour (benign), and where are they most common?
osteochondroma - humerus, femur and upper tibia.
21. what is the commonest cause of true dwarfism and what characteristics do you expect?
achondroplasia - short limbs, normal otherwise.
22. What is the commonest form of immunodeficiency and which 3 infections are they prone to?
IgA immunodeficiency. Sinopulmonary infections, giardia, salmonella
23. what is the commonest postsynaptic abnormality?
24. what is the inheritance pattern of Duchenne muscular dystrophy?
x linked recessive
25. what is the most common causative organism in osteomyelitis?
26. what is the pattern of muscular symptoms in polymyositis?
proximal limb weakness and facial muscle weakness
27. what protein is deficient in x linked agammaglobulinaemia of bruton?
Bruton's tyrosine kinase. Lung is mainly affected.
28. What triad is involved in Reiter's syndrome?
arthritis, urethritis and conjunctivitis associated with HLA-B27 and infective trigger.
29. what triad of infections are associated with DiGeorge syndrome?
candidiasis, pneumocystis pneumonia, persistent diarrhoea
30. What type of amyloid is associated with AL amyloidosis and what is the commonest cause?
AL type, in multiple myeloma (also waldenstrom's macroglobulinaemia)
31. What type of amyloid is associated with reactive systemic amyloidosis and what is the most common cause?
AA type, most commonly in rheumatoid arthritis
32. where are chondrosarcomas most commonly located?
33. which are the 5 carcinomas which most commonly metastasize to bone?
breast, bronchus (partic small cell), kidney, thyroid, prostate
34. which bone tumour is associated with an 'onion skin' appearance on x ray?
35. which cells are involved in the inflammatory response of polymyositis?
t lymphocytes and monocytes
36. which diseases are associated with osteosarcoma and where does it occur?
paget's disease, retinoblastoma syndrome, li-fraumeni syndrome - occurs round the knee.
37. which gene is affected in achondroplasia and how is inheritance controlled?
fibroblast growth factor receptor (chromosome 4), autosomal dominant inheritance, with a high incidence of spontaneous mutation