HLA, autoantibodies, vitamins & sleep flashcards
13 high-yield MRCP Part 1 cards from the Intellect Medicos Basic sciences & statistics course. Try to answer each question before you open it — then study them properly with spaced repetition, which brings each card back just before you would forget it.
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Which HLA type is associated with ankylosing spondylitis, reactive arthritis and acute anterior uveitis?
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HLA-B27.
Why? HLA-B27 underlies the seronegative spondyloarthropathies.
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What is the first-line serological test for coeliac disease, and what must be measured with it?
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IgA tissue transglutaminase (tTG) antibody, with total IgA to exclude IgA deficiency.
Why? IgA deficiency is more common in coeliac disease and causes false-negative IgA-based tests; IgG-based tests (e.g. IgG EMA/DGP) are used if IgA is low.
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A man with chronic alcohol excess is brought to ED confused, ataxic and with nystagmus. What is the immediate treatment?
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Urgent parenteral thiamine (e.g. IV Pabrinex).
Why? Thiamine (B1) deficiency causes Wernicke's encephalopathy, which can progress to irreversible Korsakoff syndrome.
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How is vitamin B12 deficiency treated when there is neurological involvement?
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IM hydroxocobalamin 1 mg on alternate days until no further improvement, then 1 mg every 2 months.
Why? B12 is needed for myelin as well as DNA synthesis; deficiency causes megaloblastic anaemia, neuropathy and subacute combined degeneration of the cord.
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Deficiency of which vitamin causes dermatitis, diarrhoea and dementia?
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Niacin (vitamin B3) — pellagra.
Why? Niacin forms NAD and NADP for energy metabolism.
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Which step of collagen synthesis depends on vitamin C?
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Hydroxylation of proline and lysine residues in procollagen.
Why? Without hydroxylation, collagen cannot form stable triple helices, causing scurvy: bleeding gums, perifollicular haemorrhages and poor wound healing.
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Alport syndrome is a defect of type ______ collagen, whereas vascular Ehlers–Danlos syndrome is a defect of type III collagen.
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IV
Why? Type IV collagen forms basement membranes (kidney, cochlea, lens): haematuria, deafness and lens defects. Type III collagen supports blood vessels and hollow organs, so vascular EDS causes arterial and bowel rupture.
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Alport syndrome is a defect of type IV collagen, whereas vascular Ehlers–Danlos syndrome is a defect of type ______ collagen.
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III
Why? Type IV collagen forms basement membranes (kidney, cochlea, lens): haematuria, deafness and lens defects. Type III collagen supports blood vessels and hollow organs, so vascular EDS causes arterial and bowel rupture.
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Sleep spindles and K-complexes are features of ______ sleep; sleepwalking and night terrors arise from N3 (slow-wave) sleep.
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N2
Why? N2 makes up about half of total sleep. N3 has delta waves and is when growth hormone is released.
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Sleep spindles and K-complexes are features of N2 sleep; sleepwalking and night terrors arise from ______ sleep.
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N3 (slow-wave)
Why? N2 makes up about half of total sleep. N3 has delta waves and is when growth hormone is released.
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REM sleep behaviour disorder often precedes which group of neurodegenerative diseases?
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Synucleinopathies: Parkinson's disease and dementia with Lewy bodies (also multiple system atrophy).
Why? Loss of normal REM atonia lets patients act out their dreams.
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Anticentromere antibodies are most associated with which condition?
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Limited cutaneous systemic sclerosis (CREST syndrome).
Why? CREST = calcinosis, Raynaud's, oesophageal dysmotility, sclerodactyly, telangiectasia.
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Anti-Jo-1 antibodies are associated with which condition?
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Polymyositis/dermatomyositis — the antisynthetase syndrome, typically with interstitial lung disease.
Why? Anti-Jo-1 targets histidyl-tRNA synthetase. Other features: mechanic's hands, arthritis and Raynaud's.