Clinical sciences Flashcards
Anti phospholipid syndroe
livedo reticualris
antibodies: lupus anticoagulant, anti beta2 glycoprotein 1, anti cardiolipin
Opsonisation
deposition of C3b on target (i.e. bacterium) ; can then be recognised by cell with complement receptor
inheritance haemochromatosis
autosomal recessive
Chromosome 6, HFE gene
von Willebrand disease
autosomal dominant
intranasal desmopressin prior to dental procedures –> release factor VIII and von willebrand factor
Chromosome 12
autosomal dominant polycystic kidney disease
hypertension
non visible haematuria
cerebral haemorrhage
treatment of iron overload
IV desferrioxamine
8mg of iron is bound by 100mg of desferrioxamine
prostaglandins
bind g protein coupled receptors
Primary biliary cholangitis
anti mitochondrial antibodies
progressive destruction of bile ducts leading to cholestasis
risk for hepatocellular carcinoma
Empaglisflozin
SGLT 2 inhibitor
Myotonic dystrophy
autosomal dominant
CTG repeat expansion on DMPK gene
19q13.3
normal <35 repeats, MD pts have >50
brain anatomy
Hypercalcaemia in Sarcoidosis
elevated Vitamin D production by activated alveolar macrophages
Familial hypercholesterolaemia
mutation in LDL receptor
high dose statin +/- evelocumab or ezetimibe (lipid lowering drugs)
DiGeorge syndrome
T cell deficiency
22q11. 2 deletion
congenital heart problems, specific facial features, frequent infections, developmental delay, intellectual disability and cleft palate.[7] Associated conditions include kidney problems, schizophrenia, hearing loss and autoimmune disorders such as rheumatoid arthritis or Graves’ disease.[7][8]
anion gap
Anion Gap = Na+ – (Cl- + HCO3-)
