Clinical Sciences

Question 1

What is the inheritance pattern for Achondroplasia?

Answer 1

Autosomal dominant

Question 2

What gene mutation leads to Achondroplasia?

Answer 2

Fibroblast Growth Factor Receptor 3 (FGFR-3)

Question 3

What are the clinical signs found in Achondroplasia? (5)

Answer 3

1) Shortened limbs
2) Macrocephaly with frontal bossing and narrow foramen magnum
3) Midface hypoplasia with flattened nasal bridge
4) Trident hands
5) Lumbar lordosis

Question 4

What are the two main forms of Acute Tubular Necrosis?

Answer 4

1) Ischaemic ATN
2) Toxic ATN

Question 5

What are the causes of toxic ATN? (4)

Answer 5

1) Aminoglycosides (Gentamicin)
2) Myoglobin secondary to Rhabdomyolosis
3) Radiocontrast agents
4) Lead

Question 6

What can be found in the urine of patients with ATN?

Answer 6

Muddy brown casts

Question 7

What is the inheritance mode of Alkaptonuria?

Answer 7

Autosomal recessive

Question 8

What enzyme is lacking in Alkaptonuria?

Answer 8

Homogentisic Dioxygenase (HGD)

Question 9

What molecule accumulates in patients with Alkaptonuria?

Answer 9

Homogenistic acid

Question 10

What are the clinical signs of Alkaptonuria? (4)

Answer 10

1) Pigmented sclera
2) Black urine
3) Intervertebral disc calcification
4) Renal calculi

Question 11

What is the treatment for Alkaptonuria?

Answer 11

1) High-dose Vitamin C
2) Dietary restriction of phenylalanine and tyrosine

Question 12

What is the equation for stroke volume?

Answer 12

End diastolic LV volume - End systolic LV volume

Question 13

What is the equation for LVEF?

Answer 13

(Stroke volume/End diastolic LV volume) x 100%

Question 14

What is the equation for Cardiac Output?

Answer 14

Stroke volume x HR

Question 15

What is the equation for pulse pressure?

Answer 15

Systolic pressure - Diastolic pressure

Question 16

What is the equation for Systemic vascular resistance?

Answer 16

Mean arterial pressure/Cardiac output

Question 17

What conditions are associated with HLA-A3? (1)

Answer 17

Haemachromatosis

HA3mochromatosis

Question 18

What conditions are associated with HLA-B27? (4)

Answer 18

Ankylosing spondylitis
Reactive arthritis
Acute anterior uveitis
Psoriatic arthritis

Question 19

What conditions are associated with HLA-DQ2/DQ8? (1)

Answer 19

Coeliac disease

CoeliaQ disease

Question 20

What conditions are associated with HLA-DR2? (3)

Answer 20

Narcolepsy
Goodpastures
SLE

DRop off 2 sleep
DR2 and DR3 diagnosed me with SLE

Question 21

What conditions are associated with HLA-DR3? (4)

Answer 21

Sjögrens disease
Dermatitis herpetiformis
Primary biliary cirrhosis
SLE

SjögR3ns
D3Rmatitis
C3Rrhosis
DR2 and DR3 diagnosed me with SLE

Question 22

What conditions are associated with HLA-B51? (1)

Answer 22

Behçets disease

B(51)ehçets

Question 23

What conditions are associated with HLA-DR4? (2)

Answer 23

T1DM
Rheumatoid Arthritis

Rheumatoid 4rthritis

Question 24

List P450 enzyme inhibitors

(Think acronym)

Answer 24

SICKFACES.com

Sodium Valproate
Isoniazid
Cimetidine
Ketoconazole
Fluoxetine
Chloramphenicol
Erythromycin
Sulfonamides
Ciprofloxacin
Omeprazole
Metronidazole
Grapefruit Juice

Question 25

List P450 inducers (Think acronym)

Answer 25

CRAP GPS Carbamazepine Rifampicin Alcohol (chronic abuse) Phenytoin Griseofulvin Phenobarbitone Sulphonylureas

Question 26

Which part of the colon is most likely to be affected by ischaemic colitis?

Answer 26

Splenic flexure

Question 27

What is the measure for sensitivity of a screening test?

Answer 27

TP/(TP+FN)

Question 28

With regards to screening tests, what does sensitivity measure?

Answer 28

The proportion of patients with a disease who have a positive test result

Question 29

What is the measure of specificity of a screening test?

Answer 29

TN/(TN+FP)

Question 30

With regards to screening tests, what does specificity measure?

Answer 30

The proportion of patients without a disease who have a negative test result

Question 31

What is the equation for positive predictive value of a screening test?

Answer 31

TP/(TP+FP)

Question 32

With regards to screening tests, what does PPV measure?

Answer 32

The chance the patient has a disease if the test is positive

Question 33

What is the equation for negative predictive value of a screening test?

Answer 33

TN/(TN+FN)

Question 34

With regards to screening tests, what does NPV measure?

Answer 34

The chance a patient does not have a disease if the test is negative

Question 35

What is the equation for the likelihood ratio +ve of a screening test?

Answer 35

Sensitivity/(1-Specificity)

Question 36

With regards to screening tests, what does L.R. +ve mean?

Answer 36

How much does the odds of a patient having a disease increase if the test is positive

Question 37

What is the equation for the likelihood ratio -ve of a screening test?

Answer 37

(1-Sensitivity)/Specificity

Question 38

With regards to screening tests, what does L.R. -ve mean?

Answer 38

How much does the odds of a patient having a disease decrease if the test is negative