Clinical Sciences Flashcards

1
Q

What is the inheritance pattern for Achondroplasia?

A

Autosomal dominant

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2
Q

What gene mutation leads to Achondroplasia?

A

Fibroblast Growth Factor Receptor 3 (FGFR-3)

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3
Q

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

A

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

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4
Q

What are the two main forms of Acute Tubular Necrosis?

A

1) Ischaemic ATN
2) Toxic ATN

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5
Q

What are the causes of toxic ATN? (4)

A

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

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6
Q

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

A

Muddy brown casts

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7
Q

What is the inheritance mode of Alkaptonuria?

A

Autosomal recessive

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8
Q

What enzyme is lacking in Alkaptonuria?

A

Homogentisic Dioxygenase (HGD)

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9
Q

What molecule accumulates in patients with Alkaptonuria?

A

Homogenistic acid

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10
Q

What are the clinical signs of Alkaptonuria? (4)

A

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

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11
Q

What is the treatment for Alkaptonuria?

A

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

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12
Q

What is the equation for stroke volume?

A

End diastolic LV volume - End systolic LV volume

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13
Q

What is the equation for LVEF?

A

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

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14
Q

What is the equation for Cardiac Output?

A

Stroke volume x HR

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15
Q

What is the equation for pulse pressure?

A

Systolic pressure - Diastolic pressure

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16
Q

What is the equation for Systemic vascular resistance?

A

Mean arterial pressure/Cardiac output

17
Q

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

A

Haemachromatosis

HA3mochromatosis

18
Q

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

A

Ankylosing spondylitis
Reactive arthritis
Acute anterior uveitis
Psoriatic arthritis

19
Q

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

A

Coeliac disease

CoeliaQ disease

20
Q

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

A

Narcolepsy
Goodpastures
SLE

DRop off 2 sleep
DR2 and DR3 diagnosed me with SLE

21
Q

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

A

Sjögrens disease
Dermatitis herpetiformis
Primary biliary cirrhosis
SLE

SjögR3ns
D3Rmatitis
C3Rrhosis
DR2 and DR3 diagnosed me with SLE

22
Q

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

A

Behçets disease

B(51)ehçets

23
Q

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

A

T1DM
Rheumatoid Arthritis

Rheumatoid 4rthritis

24
Q

List P450 enzyme inhibitors

(Think acronym)

A

SICKFACES.com

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

25
Q

List P450 inducers

(Think acronym)

A

CRAP GPS

Carbamazepine
Rifampicin
Alcohol (chronic abuse)
Phenytoin
Griseofulvin
Phenobarbitone
Sulphonylureas

26
Q

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

A

Splenic flexure

27
Q

What is the measure for sensitivity of a screening test?

A

TP/(TP+FN)

28
Q

With regards to screening tests, what does sensitivity measure?

A

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

29
Q

What is the measure of specificity of a screening test?

A

TN/(TN+FP)

30
Q

With regards to screening tests, what does specificity measure?

A

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

31
Q

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

A

TP/(TP+FP)

32
Q

With regards to screening tests, what does PPV measure?

A

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

33
Q

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

A

TN/(TN+FN)

34
Q

With regards to screening tests, what does NPV measure?

A

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

35
Q

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

A

Sensitivity/(1-Specificity)

36
Q

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

A

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

37
Q

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

A

(1-Sensitivity)/Specificity

38
Q

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

A

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