misc Flashcards
fertility is often affected in triple X syndrome T or F
F
how does a mutated ABL gene cause cancer
ABL codes for a tyrosine kinase receptor in a cell growth signalling pathway, the BCR-abl fusion gene upregulates the tyrosine kinase receptor; making it permanently switch on – CML pathogenesis.
what cancer is a mutated Myc gene associated with?
Burkitt’s lymphoma and mutations are found in a number of other cancers – gastric, colorectal, breast Ca.
what is the function of Myc gene?
Myc is a family of genes which code for specific transcription factors associated with growth regulation.
pathophysiology of neonatal diabetes?
50% due to transcriptional mutation of K-ATPase channel of beta cell.
which diabetes are turner’s syndrome patients associated with?
t1dm
someone with known renal problems, develops clinical features consistent with pericarditis, what could be the cause of it?
uraemia
most common cause of physiological (benign) proteinuria?
postural or post infection PU
how does calcinosis in CREST syndrome present in patients?
calcific bumps in their fingers
most critical complication of GCA that you should not miss out
eye involvement
difference between granulomatous polyangiitis and microscopic polyangiitis?
MPA doesn’t affect vessels in nose, (only lungs and kidneys), MPA does not have granulomas on histology, and MPA is p-ANCA associated
which vasculitis is often mistaken for asthma?
eosinophilic granulomatous polyangiits or churg strauss
which Ig(?) is HSP associated with?
IgA
where is HSP rash more likely to be?
buttocks and legs
HSP purpruse is palpable - T or F?
T
which vasculitis is associated with a saddle nose deformity?
GPA
crash symptoms in kawasaki’s disease
conjunctivitis rash adenopathy strawberry tongue hands and feet skin peeling
what condition can cause - hypercalcaemia
high ACE in serum
erythema nodosum
sarcoidosis
what kind of granulomas does sarcoidosis cause - caseating or non caseating?
non-caseating
what can be found on histology biopsy of a sarcoid granuloma?
non caseating granuloma, langerhans giant cell
what are some features of sarcoidosis
bilateral hilar lymphadenopathy
erythema nodosum
uveitis
arthritis
investigations and features in sarcoidosis?
bloods look for hypercalcaemia, raised ACE
bronchoalveolar lavage finding raised R cells
biopsy
what drug to use in asthmatic who needs aspirin for cardiovascular protection?
clopidogrel
what type of nephritis is characterised by mesangial expansion and immune complex deposition?
IgA nephropathy or poststreptococcal gn
