Exam Hints and Tips - Revision Questions and Case Studies 2 PDF

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Exam Hints and Tips - Revision Questions and Case Studies 2...

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304BMS Clinical Biochemistry Exam Hints and Tips – Example Questions 2 Please see below some example questions/case studies to help in your revision of the module content. They can be used to see whether you have understood key concepts or can interpret clinical data. These questions cover the following topics; screening (antenatal and newborn), POCT, diabetes, renal function, bone metabolism, thyroid disorders, adrenal and pituitary disorders. This is NOT an exhaustive list and does NOT cover all possible questions, pleas please ed do on not ot ffocus ocus on this res resourc ourc ource e al alon on one e for you yourr rev revisi isi ision on on. The exact questions that will be in the exam paper will obviously not be given here and most exam questions will require you to provide additional knowledge regarding pathways or pathophysiology that may not be asked for in every question here. To help in your revision, please have a look through and think about how you would approach the answer. You may write an answer out or simply prepare a detailed essay plan with bullet points. If you are stuck, use the exam hints and tips on how to approach a case study. Staff are more than happy to discuss any issues or questions you may, but we will not go through and mark individual drafts of an answer. Please do not try and memorise specific questions and answers, if you understand the subject, you should be able to answer any arrangement of questions.

Ant Anten en enat at atal al an and dN New ew ewb born SScr cr creen een eeniing 1. Give a detailed description of the laboratory screening protocol currently used for cystic fibrosis and discuss the circumstances in which it is necessary to request a second blood sample from the baby in order to complete the screening process. (50 m mar ar arks ks ks)) --------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------2. Compare the blood tests conducted in the first and second trimester of pregnancy as part of the foetal anomaly screening programme. Ensure you include in your discussion each marker, in what trimester it may be measured and how the screening sensitivity may vary. (50 m mar ar arks ks ks)) --------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------3. Discuss the UK Newborn Blood Spot Screening programme. Give a broad overview of the programme and a detailed review of EITHER phenylketonuria (PKU) or cystic fibrosis (CF) screening (50 marks)

Po Point int of Ca Care re Te Testi sti sting ng 1. Discuss what is meant by the term poin pointt of car care e ttestin estin estingg with examples of where it might be used. Include in your discussion the advantages and limitations of point of care testing and measures that can be taken to reduce some of these limitations. (50 m mar ar arks ks ks))

Dia Diabe be betes tes 1. Describe the investigations that would be carried out to diagnose diabetes mellitus and to monitor control of the disease. Discuss the evidence that intensive therapy can improve the long-term management of the disease. (50 m mar ar arks ks ks)) --------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------2. Describe the clinical and pathological features of type 1 diabetes and type 2 diabetes and explain the biochemical mechanisms linking elevated blood glucose concentrations to microvascular disease. (50 m mar ar arks ks ks)) --------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------3. Discuss the implications of the DCCT, EDIC and UKPDS studies that demonstrate the key importance of blood glucose control on the development and severity of diabetic complications. (50 m mar ar arks ks ks))

Th Thyroi yroi yroid, d, Pi Pitui tui tuita ta tary ry an and d Ad Adre re renal nal Fu Func nc nctio tio tion n 1. A 43-year-old obese (BMI 43 kg/m2), hypertensive woman is reviewed by her GP, who thinks her face looks a bit rounder/puffier than usual. Initial investigations include serum urea and electrolytes, random plasma cortisol and thyroid function tests, the results of which are shown below: Plas Plasma ma An Analys alys alysis is Na+ K+ Urea Creatinine Cortisol (8am) fT4 TSH

Resu Result lt 143 3.2 6.2 85 479 14.8 1.6

Refe Referen ren rence ce ran range ge 135 - 145 3.4 - 4.9 2.5 – 8.0 40 -130 240 – 720 9 – 22 0.4 – 4.0

Uni Units ts mmol/L mmol/l mmol/l µmol/l nmol/l pmol/L mU/L

a) With detail on the pathophysiology, explain what the initial results indicate (30 m mar ar arks ks ks)) b) What investigations (that can be done in primary care) would help the GP to decide if further investigations and/or referral are needed? (20 mar marks) ks) --------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------2. A 33-year-old woman presents with increasing nervousness and 10 kg unintentional weight loss over the previous 6 months. She is worried about the possibility that she may have cancer. On questioning, she admits to fatigue, irritability and paradoxically an increase in appetite. On examination a tremor is detected; her pulse rate is 100 bpm. The GP checks for thyroid eye disease and finds lid retraction, but nothing else.

a)

Discuss the assessment of thyroid function (30 m mar ar arks ks ks))

b) What condition could be suspected and what are the therapeutic options? (20 m mar ar arks ks ks)) --------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------3. A 32-year-old woman booked an appointment with her GP after suffering from tiredness and lethargy over the past 2 months. She had noticed that she had become dizzy when she stood up and when checked in the surgery, her blood pressure was found to be 120/80 mmHg lying down but fell to 90/50 mmHg on standing. On examination she was found to have excess skin pigmentation. Initial blood test results were as follows: An Analyte alyte Na

+

+

K Urea Cortisol at 09:00 hours Fasting blood glucose

Resu Result lt

Refe Referen ren rence ce ran range ge

Uni Units ts

129

135 – 145

mmol/l

5.8

3.5 - 5.0

mmol/l

8.5 90

3.6 - 6.7 140 - 690

mmol/l nmol/l

2.5

2.8 – 6.0

mmol/l

a) Explain how the production of cortisol is regulated in the adrenal glands and the role of cortisol in the body. (20 m mar ar arks) ks) b) Discuss the results found in this patient with suspected adrenal failure, the causes of adrenal failure and how further tests could help to identify the cause in this patient. (30 m mar ar arks ks ks))

Kid Kidne ne neyy FFun un uncti cti ctio on an and dB Bone one M Met et etab ab abol ol olism ism 1. A previously healthy 32-year-old bricklayer was admitted to hospital in shock with severe crush injuries to his legs, caused by the collapse of a building onto him. As part of the monitoring of his progress, 3 days later the following results were obtained. Plas Plasma ma An Analys alys alysis is Urea Na+ K+

Resu Result lt 42 141 6.8

Refe Referen ren rence ce ran range ge 2.5 - 6.6 132 - 144 3.3 - 4.7

Uni Units ts mmol/L mmol/L mmol/L

Discuss the diagnosis of acute renal failure in this patient. What other tests would help to confirm this diagnosis and how might this patient's progress be monitored? (50 m mar ar arks ks ks)) ---------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------

2. Discuss the role of the biochemistry laboratory in the assessment and diagnosis of renal disorders (50 m mar ar arks ks ks)) --------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------3. Susan has recently been diagnosed with vitamin D deficiency which has caused osteomalacia and hypocalcaemia. Describe the pathophysiology of Susan’s conditions and discuss the biochemical investigation of vitamin D deficiency. (50 m mar ar arks ks ks))...