Clinical Sciences Flashcards
Macrophage activation syndrome
- severe, potentially life-threatening, complication of several chronic rheumatological diseases
- high ferritin, cytopaenias, hypertriglyceridemia, and hypofibrinogenaemia
- Interferon I3
Difference between Marfans and homocysteineuria
Prescence of learning difficulties indicates homocystieneuria
Mitochondrial inherrited diseases
Leber’s optic atrophy
symptoms typically develop at around the age of 30 years
central scotoma → loss of colour vision → rapid onset of significant visual impairment
MELAS syndrome: mitochondrial encephalomyopathy lactic acidosis and stroke-like episodes
MERRF syndrome: myoclonus epilepsy with ragged-red fibres
Kearns-Sayre syndrome: onset in patients < 20 years old, external ophthalmoplegia, retinitis pigmentosa. Ptosis may be seen
sensorineural hearing loss
Turner’s syndrome features
hort stature, ovarian agenesis, melanocytic naevi, left-sided cardiac abnormalities, webbed neck and multiple other structural abnormalities.
The majority of women with Turner’s have normal intelligence.
Blue sclera can be present in Turner’s however it is rare
What is the primary mechanism whereby Vitamin D increases calciu,
Increases Ca re-absorbtion in the small intenstine (duodenum) via Vit D dependent recoptors
Dermatitis herpatiformis associated with which HLA?
HLA- DR3
Homocysteinuria features
Marfanoid body habitus
DVTs
Downward dislocation of lens
Learning difficulties
Atherosclerosis/TIA
Complement associated with SLE
C1, C2, C4
which cell surface protein does the Ebstein-Barr virus bind to
CD21
(21 yos kissing -> EBV of 21: too old for epstein)
To drink at a Barr (in the USA) you need to be 21 years old
Interleukins in sepsis - which one causes hypotension (1) and which causes fever (2)
1 - IL 1
2 - IL 6 and IL 1
interleukins = Hot T-bone stEAk
IL1 - fever
IL2 - T cell stimulator
IL3 - Bone marrow stimulator
IL4 - IgE class switching from IgG, B cell growth
IL5 - IgA, eosinophilia
% of values lie within 1 SD of the mean
68.3%
% of values lie within 2 SD of the mean
95.4%