Clinical sciences

Question 1

Anti phospholipid syndroe

Answer 1

livedo reticualris
antibodies: lupus anticoagulant, anti beta2 glycoprotein 1, anti cardiolipin

Question 2

Opsonisation

Answer 2

deposition of C3b on target (i.e. bacterium) ; can then be recognised by cell with complement receptor

Question 3

inheritance haemochromatosis

Answer 3

autosomal recessive
Chromosome 6, HFE gene

Question 4

von Willebrand disease

Answer 4

autosomal dominant
intranasal desmopressin prior to dental procedures –> release factor VIII and von willebrand factor
Chromosome 12

Question 5

autosomal dominant polycystic kidney disease

Answer 5

hypertension
non visible haematuria
cerebral haemorrhage

Question 6

treatment of iron overload

Answer 6

IV desferrioxamine
8mg of iron is bound by 100mg of desferrioxamine

Question 7

prostaglandins

Answer 7

bind g protein coupled receptors

Question 8

Primary biliary cholangitis

Answer 8

anti mitochondrial antibodies
progressive destruction of bile ducts leading to cholestasis
risk for hepatocellular carcinoma

Question 9

Empaglisflozin

Answer 9

SGLT 2 inhibitor

Question 10

Myotonic dystrophy

Answer 10

autosomal dominant
CTG repeat expansion on DMPK gene
19q13.3
normal <35 repeats, MD pts have >50

Question 11

brain anatomy

Question 12

Hypercalcaemia in Sarcoidosis

Answer 12

elevated Vitamin D production by activated alveolar macrophages

Question 13

Familial hypercholesterolaemia

Answer 13

mutation in LDL receptor
high dose statin +/- evelocumab or ezetimibe (lipid lowering drugs)

Question 14

DiGeorge syndrome

Answer 14

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]

Question 15

anion gap

Answer 15

Anion Gap = Na+ – (Cl- + HCO3-)

Question 16

Kennedy disease

Answer 16

X linked bulbospinal neuronopathy
trinucleotide repeat disorder

Question 17

Endothelin

Answer 17

afferent arteriole vasoconstriction

Question 18

heinz bodies

Answer 18

inclusions within red blood cells composed of denatured hemoglobin
G6PD deficiency

Question 19

Gastric cancer

Answer 19

signet cells
japanese ethnology
h pylori
adenoca. arises from glandular epithelium
virchovs node

Question 20

acute intermittent porphyria

Answer 20

give IV haem arginate
3-4 mg/hkg/day 4 days

deficiency in porphobilinogen deaminase
autosomal dominant
chromosome 11

Question 21

EEG waves

Answer 21

alpha 8-13 Hz
beta >14Hz
delta <4Hz
Theta 4-7Hz

Question 22

allopurinol

Answer 22

targets xanthine oxidase drives reduction of uric acid

Question 23

Which receptor does cholera endotoxin B subunit bind

Answer 23

GM1