Facioscapulohumeral muscular dystrophy
X-linked muscular dystrophy facial muscle weakness hip and shoulder girdle weakness high frequency hearing loss Abnormal retinal arteries
Cushing’s syndrome investigation findings
Hypokalaemic metabolic alkalosis
High dose dexamethasone - cortisol not suppressed (is suppressed in pituitary disease)
Ebstein’s abnormality
Atrialisation of right ventricle - small ventricle and large atria due to low insertion of tricupsid valve
Runs of SVT
fatigue
A wave in distended JVP
Atrial septal defect
Ejection systolic murmur
Louder on inspiration
Fabry disease
burning pain/paraesthesia in childhood angiokeratomas lens opacities- corneal whirls proteinuria early cardiovascular disease X-linked recessive
Poor prognostic factors in Rheumatoid arthritis
rheumatoid factor positive anti-CCP antibodies poor functional status at presentation X-ray: early erosions (e.g. after < 2 years) extra articular features e.g. nodules HLA DR4 insidious onset
what is the Koebner phenomenon
skin lesions that appear at the site of injury. It is seen in: psoriasis vitiligo warts lichen planus lichen sclerosus molluscum contagiosum
Mechanism of action: Baclofen
GABA agonists
Glycoprotein IIb/IIIa receptor agonists
abciximab
eptifibatide
tirofiban