MRCP revision

- rare (1:200,000) disorder of tyrosine metabolism - autosomal recessive - deficiency of homogentisic acid oxidase - leads to excretion o...

- represents a malignant proliferation of plasma cells derived from a single clone - incidence increases with age, median age at diagnosis ...

- a.k.a anaphylactoid purpura - small vessel vasculitis characterised by palpable purpura (usually over buttocks and lower extremities), ...

Pneumothorax is the presence of gas in pleural space Primary spontaneous pneumothorax - occurs without antecedent trauma to thorax and in...

- autosomal recessive - reduced activity of cystathionine B-synthase - accumulation of homocysteine and methionine interfere with collage...

- autosomal recessive - mutation of phenylalanine hydroxylase (chromosome 12) - incidence 1:10,000 - inability to convert phenylalanine...

Mnemonics Marfan's syndrome : chromosome 15 (15 alphabates) APKD 1 ( Polycystic kidney ) : chromosome 16 (16 alphabates) Neurofibrom...

- found on chromosome 6 - HLA corresponds to MHC class I (A,B and C) - HLA corresponds to MHC class II (D) HLA associations - HLA DR2 :...

- MPS are group of metabolic disorder caused by absence or malfunctioning of lysosomal enzymes needed to break down glycosaminoglycans (lyso...

- 2 main incretins, GLP-1 (glucagon-like peptide-1) and GIP (glucose dependent insulinotropic peptide) - secreted by L cells of ileum and...