Clinical relevance

Question 1

Why do health professionals need to be able to draw a pedigree? (4)

Answer 1

1. help determine a pattern of inheritance
2. gives a clear picture of patient’s situation
3. helps communication with other professionals
4. helps discuss patient’s ICE

Question 2

• A 21-year-old woman presents to her GP with a 3 day history of sore throat, fever (37.9 degrees Celcius) and swollen glands in her neck. She has no cough, rash and no symptoms of nausea or vomiting.•
• Describes three types of tests that could be used to help establish a diagnosis.

Answer 2

• A throat swab to be sent to the laboratory for microscopy and bacterial culture
• A throat swab to be sent to a laboratory for testing for coronavirus using a polymerase chain reaction to test for genetic material of the virus in the sample.
• A blood test sent to the laboratory to test for IgM antibodies to the Epstein Barr virus.

Question 3

Katie is an 18 year old woman who presents to A+E with nausea and vomiting. She has a history of type 1 diabetes and is feeling drowsy. She looked dehydrated on examination.

These are some of her blood results with normal ranges in brackets.

Hb 170g/L (115-160)

WBC 11x10⁹/L (4-11)

Platelets 350x10⁹/L (150-400)

Blood glucose 25.1 mmol/L (4-5.9)

pH 7.2 (7.35-7.45)

pO₂ 13.1 kPa (10-14)

pCO₂ 1.5 kPa (4.5-6)

HCO₃ 15 mEq/L (22-26)
Base excess -9.0 mEq/L (-2 - 2)

Lactate 3.1 mmol?L (0.5-1)

Applying your knowledge of homeostasis, which conrtol centre has failed, to explain Katie’s illness?

1. Type 1 pneumocytes of the lung
2. Proximal convoluted tubular cells of the kidneys
3. Type 2 pneumocytes of the lung
4. Alpha cells of the pancreas
5. Beta cells of the pancreas

Answer 3

Beta cells of the pancreas

Question 3

Anti-diuretic hormone (vasopressin) is produced by the hypothalamus and stimulates water reabsorption by the collecting ducts of the kidneys. Which communication mechanism is the hypothalamus using to communicate with the kidney?

1. Autocrine
2. Paracrine
3. Endocrine
4. Synaptic
5. Apoptotic

Answer 3

endocrine

Question 4

A 70 year old man presents to his GP with pain in his back and an x-ray shows several lytic lesions in his vertebral bodies associated with collapse of the third lumbar vertebra (L3). A blood test shows the following results;

Serum protein electrophoresis (antibody levels):

• IgG 45 g/L (4.9-16.1).
• IgA 0.4 g/L (0.8-4).
• IgM 0.1 g/L (0.6-2.1).
• IgG kappa paraprotein 31g/L (0).

The cell which is pictured below is causing the changes seen in the bone on x-ray and producing these blood results. Which of these organelles is this cell likely to have in abundance to explain this ‘protein-producing’ clinical picture?

1. Lysosomes
2. Ribosomes
3. Peroxisomes
4. Intermediate filaments
5. Smooth endoplasmic reticulum

Answer 4

Ribosomes

Question 5

An elderly man presents to his GP with formation of tense blisters. The GP sends a punch biopsy to the pathologist who comments that the blister has formed beneath the epidermis, causing the epidermis to lift off the papillary dermis. The image of the biopsy is shown. Based on what you have learned about cell connections, an abnormality affecting which connection explains this picture?

1. Desmosomes
2. Hemi-desmosomes
3. Microvilli
4. Gap junctions
5. Nuclear lamins

Answer 5

Hemi-desmosomes

Question 6

List 3 measures to prevent and control communicable diseases like measles in the UK

Answer 6

1. break the chain of infection - eg. isolation
2. track and trace
3. notify relevant authority

Question 6

List 3 measures to prevent and control communicable diseases like measles in the UK

Answer 6

1. break the chain of infection - eg. isolation
2. track and trace
3. notify relevant authority