Clinical Sciences Flashcards

(36 cards)

1
Q

A patient presents with confusion, abdominal pain, peripheral neuropathy, constipation and blue lines on their gum. They drink 4 bottles of wine per week. What is the diagnosis?

A

Lead poisoning

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2
Q

A patient’s bloods show microcytic anaemia, basophilic stippling and clover leaf red cells. What is the diagnosis?

A

Lead poisoning

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3
Q

What is the management of lead poisoning?

A

DMSA - dimercaptosuccinic acid
D-penicillamine
EDTA
Dimercaprol

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4
Q

Which things are raised in anorexia nervosa?

A

Growth hormone, glucose, salivary glands, cholesterol, carotinaemia, cortisol

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5
Q

What does cyanide do?

A

Inhibits cytochrome c oxidase which causes cessation of mitochondrial electron transfer chain

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6
Q

A patient presents with brick red skin and can smell bitter almonds. They are hypoxic, hypotensive and confused. What is the diagnosis?

A

Cyanide poisoning

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7
Q

What is the management of cyanide poisoning?

A

1) 100% oxygen
2) Hydroxocobalamin
3) Amyl nitrite, sodium nitrite, sodium thiosulfate

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8
Q

A 20 year-old female presents with a rash on the extensor aspect of her arms. It is intensely itchy. She gives a history of fatigue and diarrhoea for the last few months, but has been unable to book an appointment until now. Her past medical history includes recurrent chest, urine and ear infections throughout childhood requiring multiple courses of antibiotics. She still occasionally suffers with infections. On examination there is a blistering rash around both elbows. You suspect dermatitis herpetiformis and coeliac disease, and send off a coeliac disease blood test. She is started on a gluten free diet and improves. In the meantime her blood test comes back negative.

What is the reason for the negative coeliac test?

A

IgA deficiency

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9
Q

How should you test for coeliac in IgA deficiency?

A

IgG-anti TTG antibodies

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10
Q

How would you screen family members for haemachromatosis?

A

HFE gene analysis

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11
Q

How would you test the general population for haemachromatosis?

A

Transferrin saturation

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12
Q

What is the number needed to treat?

A

The number of people needed to treat to reduce the number of desired outcomes by 1

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13
Q

How do you calculate NNT?

A

1/Absolute risk reduction

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14
Q

How do you calculate absolute risk reduction?

A

Control Event Rate-Experiment Event Rate or vice versa

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15
Q

What is control event rate?

A

Number of control with desired outcome/number of control

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16
Q

What is experiment event rate?

A

Number of intervention with desired outcome/number of intervention

17
Q

Which collagen defect is seen in Goodpasture’s?

18
Q

Which collagen defect is seen in Alport?

19
Q

Which collagen defect is seen in osteogenesis imperfecta?

20
Q

Which collagen defect is seen in Ehlers-Danlos syndrome?

A

Type III and Type V (Type V more classical)

21
Q

Which phase of the cell cycle is influenced by p53 and determines cell cycle length?

22
Q

What is Fanconi syndrome?

A

Global dysfunction of proximal renal tubules leading to impaired reabsorption of key substances

23
Q

What is lost in urine in Fanconi syndrome?

A

Glucose, bicarb, potassium, amino acids, uric acid, calcium, phosphate

24
Q

What are the features of Fanconi syndrome?

A

Polyuria and polydypsia
Growth failure in children
Muscle weakness
Bone pain/rickets/osteomalacia
Acidosis

25
What are the causes of Fanconi syndrome?
Cystinosis (children) Sjogren's Multiple myeloma Nephrotic syndrome Wilson's disease
26
What factor is protective for hepatotoxicity in paracetamol overdose?
Acute alcohol
27
What are the stages of sleep?
Non-REM 1 Non-REM 2 Non-REM 3 REM
28
What waves are seen in each stage of the sleep cycle?
N1 - theta N2 - Sleep spindles N3 - Delta REM - Beta
29
What happens in N1 sleep stage?
Light sleep. Hypnic jerks
30
What happens in N2 sleep stage?
Deeper sleep. 50% of total sleep.W
31
What happens in N3 sleep stage?
Deep sleep. Night terrors, enuresis, sleepwalking
32
What happens in REM sleep?
Dreaming. Loss of muscle tone, erections
33
A patient has a provoked PE. How long should they be anticoagulated for?
3 months (3-6 if active cancer)
34
A patient has an unprovoked PE. How long should they be anticoagulated for?
6 months
35
What is expressivity in genetics?
The extent to which a genotype shows phenotypic expression in an individual
36
What is meant by genetic penetrance?
Genotype is present but there is variability in the observed phenotype e.g. 50 people have a genotype but only 45 of them show the phenotype of the condition