clinical problem solving term 1...cs8.4 case study: no energy. .....81 . clinical problem solving...
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MB ChB Intake 2021
MB ChB
Clinical Problem Solving Term 1
Student Workbook
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Clinical Problem Solving Term 1 Workbook Table of Contents
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Table of Contents Table of Contents ............................................................................................. 1
Introduction to the Unit ................................................................................... 6
Aim of the Unit ............................................................................................. 6
GMC ‘Outcomes for Graduates’ Addressed by the Unit .............................. 6
Outcomes 1: Professional values and behaviours .................................... 6
Outcomes 2: Professional skills ................................................................ 6
Outcomes 3: Professional knowledge ...................................................... 7
Specific Learning Outcomes ......................................................................... 8
Specific Learning Outcomes ......................................................................... 8
The Curriculum Philosophy - Guided Learning ............................................. 9
Constructing understanding ..................................................................... 9
Learning in context ................................................................................... 9
Learning together ..................................................................................... 9
The key steps of guided learning .............................................................. 9
1.1.1 Resources for the Unit ............................................................ 10
Unit Lead..................................................................................................... 10
1 Session One: Introduction to Clinical Problem Solving............................... 11
1.1 Aim of the Session .......................................................................... 11
1.2 Learning Outcomes for the Session ................................................ 11
1.2.1 Specific unit outcomes addressed by the session .................. 11
1.2.2 Detailed outcomes for the session ......................................... 11
1.3 Structure of the Session .................................................................. 11
1.4 Lecture: Introduction to Clinical Problem Solving .......................... 12
Clinical Problem Solving .......................................................................... 12
1.5 Group Work: Concept Map for Chest Pain...................................... 15
Your Concept Map: ................................................................................. 16
1.6 Self-directed Study .......................................................................... 17
2 Session Two: Preparing for Assessments ................................................ 18
2.1 Aim of the Session ........................................................................... 18
2.2 Learning Outcomes for the Session ................................................ 18
2.2.1 Specific unit learning outcomes addressed by this session .... 18
2.2.2 Detailed outcomes for the session .......................................... 18
2.3 Structure of the Session .................................................................. 18
2.4 Lecture: Assessments in the Medical Course .................................. 19
2.5 Group Work: Outcomes of the Course ........................................... 21
Questions to test your understanding of concepts: ............................... 21
2.6 Group Work: Expressing Yourself Concisely ................................... 24
Questions to test your understanding of concepts ................................ 24
2.7 Self-directed Study: Literacy ........................................................... 26
Punctuation ............................................................................................. 26
Tautological Repetition ........................................................................... 27
Writing correctly ..................................................................................... 28
2.8 Self-directed Study .......................................................................... 28
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Clinical Problem Solving Term 1 Workbook Table of Contents
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3 Session Three: Cystic Fibrosis ................................................................. 29
3.1 Aim of the Session .......................................................................... 29
3.2 Learning Outcomes for the Session ................................................ 29
3.2.1 Specific unit outcomes addressed by the session .................. 29
3.2.2 Detailed outcomes for the session ......................................... 29
3.3 Structure of the Session ................................................................. 29
3.4 Lecture: Cystic Fibrosis ................................................................... 30
Your Concept Map .................................................................................. 32
3.5 Group Work: Cystic fibrosis Questions ........................................... 33
3.6 Role Play: ........................................................................................ 36
3.7 Self-directed Study ......................................................................... 36
4 Session Four: Sickle Cell Disease ............................................................ 37
4.1 Aim of the Session .......................................................................... 37
4.2 Learning Outcomes for the Session ................................................ 37
4.2.1 Specific unit outcomes addressed by the session .................. 37
4.2.2 Detailed outcomes for the session ......................................... 37
4.3 Structure of the Session ................................................................. 37
4.4 Lecture: Sickle Cell Disease ............................................................. 38
Your Concept Map .................................................................................. 40
4.5 Group Work: Sickle Cell Disease Questions .................................... 41
Setting ..................................................................................................... 41
4.6 Self-directed Study: Numeracy ....................................................... 45
Section A: Tables and Graphs ................................................................. 45
Section B: Equations ................................................................................ 47
Section C: Percentages ............................................................................ 47
Section D: Multiplication and Division .................................................... 48
Section E: Units and Scales ..................................................................... 49
Section F: Ratios and Logarithms ........................................................... 49
4.7 Self-directed Study .......................................................................... 49
5 Session Five: Joint Pain ............................................................................ 50
5.1 Aim of the Session ........................................................................... 50
5.2 Learning Outcomes for the Session ................................................ 50
5.2.1 Specific unit outcomes addressed by the session ................... 50
5.2.2 Detailed outcomes for the session .......................................... 50
5.3 Structure of the Session .................................................................. 50
5.4 Lecture: Joint Pain ........................................................................... 51
Joints in the body .................................................................................... 51
Arthritis ................................................................................................... 51
Mono-arthritis ......................................................................................... 51
Poly-arthritis ............................................................................................ 51
Consulting with a patient who may have arthritis .................................. 52
Commonest types of arthritis ................................................................. 52
Osteoarthritis .......................................................................................... 52
Rheumatoid arthritis ............................................................................... 52
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5.5 Concept map: Joint pain ................................................................. 54
5.6 Group Work: Questions to test your understanding ...................... 55
Joint structure ......................................................................................... 55
Bone pathology ....................................................................................... 55
5.7 Case Studies .................................................................................... 57
CS5.1 Case Study: Chronic joint pain and/or swelling ...................... 57
CS5.2 Case Study: Acute joint pain and swelling. ............................. 58
CS5.3 Case Study: Acute joint pain and swelling. ............................. 59
CS5.4 Case Study: Acute joint pain and swelling. ................................... 60
5.8 Self-directed Study ......................................................................... 60
6 Session Six: Pathological Fractures ......................................................... 61
6.1 Aim of the Session .......................................................................... 61
6.1 Learning Outcomes for the session ................................................ 61
6.1.1 Specific unit outcomes addressed by the session .................. 61
6.1.2 Detailed outcomes for this session ........................................ 61
6.2 Structure of the Session ................................................................. 61
6.3 Lecture: Pathological Fractures ...................................................... 62
Your Concept Map: ................................................................................. 65
6.4 Group Work: Fractures ................................................................... 66
Disease Definition ................................................................................... 66
Post-Translational Modification in Protein Synthesis ............................ 67
6.5 Public Health Poster ....................................................................... 69
6.6 Self-directed Study .......................................................................... 69
7 Session Seven: Evidence Based Medicine ............................................... 70
7.1 Aim of the Session ........................................................................... 70
7.2 Learning Outcomes for the Session ................................................ 70
7.2.1 Specific unit outcomes addressed by this session .................. 70
7.2.2 Detailed outcomes for the session .......................................... 70
7.3 Structure of the Session .................................................................. 70
7.4 Lecture: Introduction to Evidence Based Medicine ........................ 71
7.5 Self-directed Study .......................................................................... 72
8 Session Eight: TigreenAll the Time .......................................................... 73
8.1 Aim of the Session ........................................................................... 73
8.2 Learning Outcomes for the Session ................................................ 73
8.2.1 Specific unit outcomes addressed by this session .................. 73
8.2.2 Detailed outcomes for the session .......................................... 73
8.3 Structure of the Session .................................................................. 73
8.4 Lecture: TigreenAll the Time ........................................................... 74
Your Concept Map: ................................................................................. 76
8.5 Group Work: Questions - Tigreenall the time ................................. 77
CS8.1 Case Study: Abnormal blood glucose. ..................................... 77
CS8.2 Case Study: No energy ............................................................ 78
CS8.3 Case Study: No energy. ........................................................... 80
CS8.4 Case Study: No energy. ................................................................. 81
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8.6 Self-directed Study ......................................................................... 83
9 Session Nine: Fever ................................................................................. 84
9.1 Aim of the Session .......................................................................... 84
9.2 Learning Outcomes for the Session ................................................ 84
9.2.1 Specific unit outcomes addressed by the session .................. 84
9.2.2 Detailed outcomes for the session ......................................... 84
9.3 Structure of the Session ................................................................. 84
9.4 Lecture: Body Temperature Control and Fever .............................. 85
Heat inputs ............................................................................................. 85
Heat loss ................................................................................................. 85
The ‘thermo-neutral’ environment ........................................................ 85
Decreasing heat loss ............................................................................... 86
Increasing heat gain ................................................................................ 86
Decreasing heat gain .............................................................................. 86
Increasing heat loss ................................................................................ 86
Control of body temperature ................................................................. 86
The concept of ‘set point’ ....................................................................... 87
Fever ....................................................................................................... 87
Resolution of fever ................................................................................. 87
Pyrogens ................................................................................................. 87
Managing fevers ..................................................................................... 88
9.5 Group Work: Body Temperature Control & Fever ......................... 89
Questions to test your understanding of concepts ................................ 89
CS9.1 Case Study: Fever. ................................................................... 91
CS9.2 Case Study: Fever. ................................................................... 92
CS9.3 Case Study: Fever. ................................................................... 93
CS9.4 Case Study: Abnormal blood glucose. ........................................... 94
9.6 Public Health poster ........................................................................ 94
9.7 Write your own assessment questions: .......................................... 95
9.8 Self-directed Study .......................................................................... 97
10 Session Ten: Mood disorders .............................................................. 98
10.1 Aim of the Session ........................................................................... 98
10.2 Learning Outcomes for the Session ................................................ 98
10.2.1 Specific unit outcomes addressed by the session ................... 98
10.2.2 Detailed outcomes for the session .......................................... 98
10.3 Structure of the Session .................................................................. 98
10.4 Lecture: Depression ........................................................................ 99
Symptoms ................................................................................................ 99
Causes ..................................................................................................... 99
Neurotransmitters................................................................................... 99
Psychological Factors ............................................................................ 100
Diagnosis ............................................................................................... 100
Pharmacological Treatment .................................................................. 101
Psychological Intervention .................................................................... 101
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10.5 Group Work: Depression .............................................................. 102
Notes/prompts for educators to guide students: ................................ 104
Questions to test your understanding of concepts: Mental health
problems ............................................................................................... 105
10.6 Self-directed Study ....................................................................... 108
11 Session Eleven: Headache ................................................................ 109
11.1 Aim of the Session ........................................................................ 109
11.2 Learning Outcomes for the Session .............................................. 109
11.2.1 Specific unit outcomes addressed by the session ................ 109
11.2.2 Detailed outcomes for the session ....................................... 109
11.3 Structure of the Session ............................................................... 109
11.4 Lecture: Headache ....................................................................... 110
Your Concept Map: Headache .............................................................. 111
11.5 Group Work: Role Play ................................................................. 112
CS11.1 Case Study: Headache ...................................................... 112
CS11.2 Case Study: Headache ...................................................... 113
CS11.3 Case Study: Headache ...................................................... 114
CS11.4 Case study: Headache .................................................................. 115
11.6 Self-directed Study ....................................................................... 116
12 Session Twelve: Revision .................................................................. 117
12.1 Aim of the Session ........................................................................ 117
12.2 Learning Outcomes for the Session .............................................. 117
12.2.1 Specific Learning Outcomes ................................................. 117
12.2.2 Detailed learning outcomes for the session ......................... 117
12.3 Structure of the Session ................................................................ 117
12.4 Self-directed Study ........................................................................ 117
Index .............................................................................................................. 118
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Clinical Problem Solving Term 1 Workbook Introduction to the Unit
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Introduction to the Unit
Aim of the Unit
The aim of this unit is to enable you to develop the skills of integrating
understanding, and focussing that integrated understanding on problems
presented by your patients.
GMC ‘Outcomes for Graduates’ Addressed by the Unit
Like all the Units in the medical course this Unit helps you to meet the
outcomes defined by the General Medical Council in its document
‘Promoting Excellence: Standards for Medical Education and Training’ (2016)
and updated in 2018. The particular outcomes addressed are listed below,
but it is important to realise that no single Unit in the course will enable any
of these outcomes fully to be achieved, as they are addressed by multiple
Units across the course and you should explore where the information is
contextualised between Units. Graduates must be able to demonstrate all
of the ‘outcomes for graduates’ in the context of caring for patients in the
population they will serve as new doctors.
Outcomes 1: Professional values and behaviours
2. Newly qualified doctors must behave according to ethical and
professional principles. They must be able to:
b. demonstrate compassionate professional behaviour and their
professional responsibilities in making sure the fundamental needs of
patients are addressed.
d. maintain confidentiality and respect patient’s dignity and privacy.
e. act with integrity, be polite, considerate, trustworthy and honest.
f. take personal and professional responsibility for their actions.
g. manage their time and prioritise effectively.
h. recognise and acknowledge their own personal and professional
limits and seek help from colleagues and supervisors when
necessary, including when they feel that patient safety may be
compromised.
j. Recognise the impact of their own attitudes and perceptions
(including personal bias, which may be unconscious) on groups
within society or individuals belonging to particular groups and
identify personal strategies that might be adopted to address this.
m. act appropriately, with an inclusive approach, towards patients and
colleagues.
p. explain and demonstrate the importance of professional
development and lifelong learning and demonstrate commitment to
this.
r. respect patients’ wishes about whether they wish to participate in
the education of learners.
8. Newly qualified doctors must recognise the role of doctors in
contributing to the management and leadership of the health service.
They must be able to:
b. undertake various team roles including, where appropriate,
demonstrating leadership and the ability to accept and support
leadership by others.
c. identify the impact of their behaviour on others.
Outcomes 2: Professional skills
10. Newly qualified doctors must be able to communicate effectively,
openly and honestly with patients, their relatives, carers or other
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Clinical Problem Solving Term 1 Workbook Introduction to the Unit
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advocates, and with colleagues, applying patient confidentiality
appropriately. They must be able to:
a. communicate clearly, sensitively and effectively with patients,
their relatives, carers or other advocates, and colleagues from
medical and other professions, by:
• listening, sharing and responding
• demonstrating empathy and compassion
• demonstrating effective verbal and non-verbal interpersonal
skills
• making adjustments to their communication approach if needed,
for example for people who communicate differently due to a
disability or who speak a different first language
• seeking support from colleagues for assistance with
communication if needed.
11. Newly qualified doctors must be able to carry out an effective
consultation with a patient. They must be able to:
b. encourage patients’ questions, discuss their understanding of
their condition and treatment options, and take into account their
ideas concerns, expectations, values and preferences
c. acknowledge and discuss information patients have gathered
about their conditions and symptoms, taking a collaborative
approach.
13. Newly qualified doctors must be able to perform a range of diagnostic,
therapeutic and practical procedures safely and effectively, and identify,
according to their level of skill and experience, the procedures for which they
need supervision to ensure patient safety. They must be able to:
a. propose an assessment of a patient’s clinical presentation,
integrating biological, psychological and social factors, agree this
with colleagues and use it to direct and prioritise investigations and
care.
Outcomes 3: Professional knowledge
22. Newly qualified doctors must be able to apply biomedical scientific
principles, methods and knowledge to medical practice and integrate
these into patient care. This must include principles and knowledge
relating to anatomy, biochemistry, cell biology, genetics, genomics and
personalised medicine, immunology, microbiology, molecular biology,
nutrition, pathology, pharmacology and clinical pharmacology, and
physiology. They must be able to:
a. explain how normal human structure and function and
physiological processes applies, including at the extremes of age,
in children and young people and during pregnancy and
childbirth.
b. explain the relevant scientific processes underlying common and
important disease processes.
c. justify, through an explanation of the underlying fundamental
principles and clinical reasoning, the selection of appropriate
investigations for common clinical conditions and diseases.
f. analyse clinical phenomena and conduct appropriate critical
appraisal and analysis of clinical data, and explain clinical
reasoning in action and how they formulate a differential
diagnosis and management plan.
26. Newly qualified doctors must be able to apply scientific method and
approaches to medical research and integrate these with a range of
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Clinical Problem Solving Term 1 Workbook Introduction to the Unit
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sources of information used to make decisions for care. They must be
able to:
e. critically appraise a range of research information including study
design, the results of relevant diagnostic, prognostic and
treatment trials, and other qualitative and quantitative studies as
reported in the medical and scientific literature.
f. formulate simple relevant research questions in biomedical
science, psychosocial science or population science, and design
appropriate studies or experiments to address the questions.
Specific Learning Outcomes
To help you more specifically, we have also framed these outcomes into a list
of secondary outcomes that you should have achieved by the end of the
Clinical Problem Solving unit.
By the end of this Unit, you should be able to:
Specific Learning Outcomes
By the end of this unit you should be able to:
• Describe in general terms the process of clinical problem solving.
• Explain the process of constructing a ‘concept map’ and apply it to a
clinical presentation.
• Apply the information on the ‘concept map’ to link information and
ideas in multiple contexts.
• Identify topic areas relevant to a given clinical presentation or
condition
• Explain how concept maps will help you to prepare for assessments.
• Describe and explain the educational rationale for the format of
written questions.
• Apply the information on your concept map to identify important
questions that may be asked in assessments relating to any clinical
presentation or condition, and how you will prepare to answer them.
• Write example assessment questions using your concept maps
• Describe how a careful history can help you to differentiate one
medical condition from another.
• Evaluate the information gained during history taking, clinical
examination and appropriate investigations, and then applying it to
clinical problem solving.
• Synthesise the intellectual process that enables you to identify and
catalogue information relevant to individual clinical presentations or
conditions, as the course progresses.
• Evaluate clinical evidence and apply it to clinical problem solving.
Apply, in particular understanding of the concepts of the Clinical
Problem Solving Unit to the diagnosis and management of patients
who present with any one of the following from the 66 core
presentations described in the MB ChB programme, in this Unit we
will cover:
• Chest pain - acute
• Blood glucose - abnormal
• Bowel habit change
• No energy – TATT
• Malaena/blood loss GI
• Pallor and/or abnormal blood test
• Headache
• Falls
• Joint pain/ swelling - acute
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Clinical Problem Solving Term 1 Workbook Introduction to the Unit
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• Joint pain/ swelling – chronic
• Back pain and/ or sciatica
• Fractures/ dislocation
• Affective disorders
• Psychosis/ personality disorders
• Genetic and or congenital disorder
• Fever/ infection
• Apply understanding of the concepts in the Clinical Problem Solving Unit, where relevant, to the remaining key presentations on the list defined in the Code of Practice for Assessment, many of which are also indicated in the clinical scenarios presented in this workbook.
The Curriculum Philosophy - Guided Learning
This Unit is not a separate entity, but part of an integrated programme with a
clear educational philosophy – guided learning. This workbook provides
much of the material you will need to follow this process, though you will
also use other resources. Guided learning has three key features:
Constructing understanding
The Unit aims to present material to you in an easily digestible way, but you
must then work to develop the understanding that will allow you to apply it
effectively to the practice of medicine. You must continually explore and re-
visit ideas from all units as the course progresses, applying them repeatedly
in different ways. This way you will construct understanding for yourself
through systematic exploration and application of ideas. This requires active
learning, which is the antithesis of the passive acquisition and regurgitation
of material that you may have indulged in previously.
Learning in context
Building understanding requires appreciation of the context in which you will
use it - the practice of medicine. Guided learning therefore focuses your
understanding on patient problems by continually revisiting material in the
context of different patient problems. We use a list of common patient
problems both to structure problem solving tasks to help you learn, and
assessment tasks to test what you have learnt. ‘Cognitive re-organisation’ is
the essence of learning to be a doctor. You must move away from
“memorising” material as it has been presented to you, to understanding it
in ways that you are going to use it. You need to be able to take a given
concept and apply it in multiple different contexts.
Learning together
You are privileged to have your fellow medical students as companions on
your personal journey. Like all journeys, a medical course is easier and more
fun in company. Working with other students in group work will both
enhance your own learning, and ensure that you acquire valuable skills of
working with others.
The key steps of guided learning
Guided learning follows the same pattern in all Units, so you are guided
through repeated reflective cycles of learning.
1. We will present ideas and material to you mostly through lectures,
supplemented by guided reading of material in textbooks and other
resources.
2. You will then move rapidly into group work, where you will address,
as a group, structured problems relating to the material that has just
been presented, its relationships to other material and the
application of those concepts to common patient problems. Your
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Clinical Problem Solving Term 1 Workbook Introduction to the Unit
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work in groups will be supported by tutors, but not directly tutor-led.
In group work your performance will be assessed in terms of your
attention, focus, engagement and contribution to the activities, and
each term this will provide you with invaluable feedback as you
develop your team- working skills.
3. The group work is followed up by self-directed study, where you will
work on the ideas further using a variety of resources, some
suggested by us, others identified by yourselves, in order to enhance
your understanding, and link it to other material across the course so
you may apply it to a wide range of patient problems.
If you can see early how you are going to use material, however, it becomes
very much easier to cope with, because you can place your learning into
context. In this Unit we shall be considering the way in which different
patients present with problems. We will discuss how we gather the necessary
information, by speaking to the patient and learning about their “history”.
Further information is gathered by examining the patient, and then deciding
which investigations they need. Clinical Problem Solving is the intellectual
process involved in bringing all this information together to make an accurate
diagnosis and an appropriate management plan.
1.1.1 Resources for the Unit
Much of the content is presented in either concurrent or later Units and
the workbooks and reading prescribed for those Units will be your major
resource. You will need to search out some topics, in order to learn the skills
of doing so, as well as learn how to filter information from multiple sources.
Recommended Books:
Kumar and Clark Clinical Medicine, Paveen Kumar and Michael Clarke (9th
edition).
Further Reference:
Davidson’s Principles & Practice of Medicine, edited by Stuart H. Ralston et al
23rd edition
What is a concept map? J. Novak & A Canas www.ihmc.us (2008)
Unit Lead
http://www.ihmc.us/
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Clinical Problem Solving Term 1 Workbook 1 Session One: Introduction to Clinical Problem Solving
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1 Session One: Introduction to Clinical Problem Solving
1.1 Aim of the Session
The aim of this session is that you should start to become familiar with the
process of collecting information about a patient’s problem and the
understanding and skills that you will need to diagnose and manage that
problem.
1.2 Learning Outcomes for the Session
1.2.1 Specific unit outcomes addressed by the session
• Describe in general terms the process of clinical problem solving.
• Explain the process constructing a ‘concept map’ and apply it to a
clinical presentation.
1.2.2 Detailed outcomes for the session
• By the end of this session you should be able to:
• Explain the terms ‘symptom’, ‘sign’, and ‘investigation’
• Explain the term ‘taking a history’ from a patient, and define the
elements of a complete history, including:
o Presenting complaint
o History of presenting complain
o Past medical & drug history
o Family history
o Social history
o Ideas, concerns & expectations
• Explain the process of concept mapping, and demonstrate it in the
context of a patient presenting with crushing chest pain
1.3 Structure of the Session
1330-1430 Lecture: Introduction to Clinical Problem Solving
1430-1600 Group work: Concept maps
1600-1645 Group work: Patient experience
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Clinical Problem Solving Term 1 Workbook 1 Session One: Introduction to Clinical Problem Solving
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1.4 Lecture: Introduction to Clinical Problem Solving
Any medical student or doctor will tell you that the principal intellectual
challenge of a medical course is the breadth of the subject. There are few
individual concepts which are difficult to understand, but there are a huge
number of ideas to assimilate and interrelate. There are thousands of
doctors practising all over the world who have managed this challenging task,
so it can be done, but it is not easy.
There is a huge temptation to try and divide the material into isolated, bite-
sized chunks, each contained within its own impregnable silo. These may
easily be learned, but are only useable if applied in the precise context which
generated them. This is fine if you are learning to pass A-levels when the
question format and content is largely predictable, so you may learn material
only in the way which will subsequently be tested.
Such learning is shallow, context specific and not what is known as
‘generalizable’. That is to say it cannot be used in multiple different contexts,
which is exactly what you will have to do as a doctor. Generalizable
information can be used for problem solving and is what being a doctor is all-
about. It is completely different to writing answers in response to pre-
determined cues.
Clinical Problem Solving
Clinical problem solving is a process of merging information collected from a
patient with ideas and concepts in your head in order to make a diagnosis
which will facilitate the construction of a management plan that may be
implemented in collaboration with the patient.
Information collected from a patient is in three categories:
1. Symptoms: These are things that a patient reports to you, such as a
pain in some part of their body, feeling breathless, feeling tired, or
changes that they have noticed about themselves.
2. Signs: This is information you collect by examining a patient.
Examination involves looking at the patient (inspection), feeling the
patient with your hands (palpation), listening to some part of the
patient, usually with a stethoscope (auscultation) and tapping a
patient to elicit a sound or response (percussion). You may also
undertake a mental state examination by asking the patient to
perform a series of tasks.
3. Investigations: This is where equipment of some kind is used to
image some part of a patient, measure a physiological process
(breathing, hearing, heart function) or measure some biochemical
variable in the body.
The symptoms a patient reports are collected by talking with the patient,
which is known as ‘taking a history’. You will learn a structured approach to
this specialised communication skill as the course progresses, starting with
the Clinical Skills Foundation Course which runs alongside this unit.
You will need to identify a ‘presenting complaint’, often known as a
‘presentation’, which is a mixture of symptoms and signs which defines the
starting point for problem solving. For example, a patient may have ‘central
crushing chest pain’ or ‘acute epi-gastric pain’.
You will then collect the ‘history of the presenting complaint’ which will tell
you what events preceded and are associated with this clinical event, plus a
variety of other information about the patient’s previous medical history,
drug history, social history and what the patient already believes about the
condition, (‘ideas’) what they are worried about (‘concerns’) and what they
expect you to do about it (‘expectations’).
You will be problem solving as information is collected, so that you may focus
on relevant questions in the history, examine the patient appropriately and
order the appropriate investigations. This involves matching the evolving
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Clinical Problem Solving Term 1 Workbook 1 Session One: Introduction to Clinical Problem Solving
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patient story to structures in your head which enable you to identify what is
wrong with the patient.
These structures are commonly called ‘illness scripts’ and they are the means
by which expert clinicians make diagnoses very quickly indeed. The process
is one of recognition, but it is not simple pattern recognition, rather a
process of exploring options very swiftly and deciding between them – a so
called hypothetico-deductive approach.
The process is strongly analogous to the recognition of objects in the world,
skills we all learn unconsciously at a very early age. The hypothetico-
deductive approach involves the testing of ideas, by asking ‘what if’
questions. The basis of these questions in medicine is a deep understanding
of how the body is put together, how it works and in what ways it can go
wrong.
This deep understanding needs to be in the form of what computer buffs
among you will understand as a ‘relational database’. That is to say any
piece of data may be accessed by a huge variety of routes and is linked to
potentially many different presentations or diseases.
Your task is to build these links. A useful tool for the purpose is the ‘concept
map’. Many of you will have used these before, and may have called them
‘spider diagrams’, or “mind maps”.
The clinical presentation or condition is placed in a central box and related
ideas in nearby boxes linked by lines. Each of these boxes identifies relevant
information, but does not necessarily contain it in detail. It is simply a flag
that indicates this information is relevant and in what way. Information may
be defined in a number of levels of detail by connecting boxes to others, so
that over the whole diagram the picture is complete.
The same concepts will recur in many different concept maps, and over time
you will begin to see that relatively few big ideas explain a great deal of what
you need to know. These then provide you a means of handling the mass of
information, and make it shrink overnight. The aim of our assessment
scheme is to reward those of you who develop the cognitive (i.e. mental)
structures that help you problem solve.
All questions in the assessments are related to a clinical presentation or
condition, and all open with a case scenario which relates, in a succinct form,
to aspects of a patient’s presenting complaint. This is then followed by a
series of questions relating to that scenario. These questions are chosen by
the examiners who use concept maps to identify relevant questions relating
to that presentation or condition.
If you understand, and have similar concept maps then the questions we may
ask are often predictable. You can therefore work out for yourself the best
way to revise for the assessments.
In summary, if you are to be a good doctor you must learn to think like a
doctor from day one, which is a skill that has to be acquired. The quicker you
change, the more successful you will be.
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The following diagram suggests a broad structure for your concept maps:
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Clinical Problem Solving Term 1 Workbook 1 Session One: Introduction to Clinical Problem Solving
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1.5 Group Work: Concept Map for Chest Pain
Consider the presentation ‘Crushing Central Chest Pain’. This might be
presented as follows:
Deepak, aged 53, has enjoyed his life, consuming with relish his wife’s
excellent cooking. He is a little portly as a result, and a few years ago he was
diagnosed as diabetic, although he is reasonably well controlled with oral
drugs. He also has higher blood pressure than he should, but has been
resistant to suggestions that he should exercise and lose some weight. After
a stressful day at the office he develops sudden onset chest pain which is
severe, and feels like a band crushing his chest. He is pale and has vomited.
You are the first to see him when he arrives in the Emergency Department.
You suspect a myocardial infarction.
Your task is to construct an outline concept map of the topics you will need
to know about to confirm your suspicions and subsequently manage Deepak
with the aim of keeping him alive.
The essence of Deepak’s condition is:
1. Deepak has atherosclerosis of his coronary arteries, i.e. the blood
vessels which carry blood to the muscle of his heart. Atherosclerosis
is a thickening of the inner layer of the blood vessels, due to changes
in cells stimulated by the accumulation of oxidised LDL cholesterol
within them. This builds up over time and is exacerbated by high
blood cholesterol (affected by diet) and damage caused by smoking
and high blood pressure.
2. This thickening protrudes into the lumen (hole down the middle) of
the blood vessels and makes it harder for blood to flow to the heart
muscle, which must have a high blood flow to maintain its constant
activity. So long as the atherosclerosis is stable, the effect is to limit
blood flow to the heart muscle in exercise, which may lead to pain
called angina. Angina comes on with exercise and is normally
relieved by rest.
3. The surface of the atherosclerosis may however eventually become
roughened and attract blood clots. These may suddenly detach with
some of the atherosclerosis and flow down the artery to block a
branch completely, so that the part of the heart muscle supplied by
that branch dies. This is a myocardial infarction. Myocardial
infarction normally leads to acute severe central chest pain which is
crushing in character and may radiate to the neck and arm because
of the way in which the nerves to the heart are organised.
4. A myocardial infarction will seriously disrupt the flow of electrical
impulses across the heart that produces the heartbeat, and these
electrical disturbances may be detected with a test known as the
electrocardiogram. The dying cells also release enzymes into the
blood stream which may be detected by a blood test.
5. The objective of immediate management is to prevent more clots
forming (usually by using a drug like aspirin) and to dissolve those
that have formed (usually using a drug like alteplase). In some
circumstances, a stent may be inserted to by-pass the blockage. The
patient will need strong pain relief and oxygen to help to get oxygen
to his damaged heart and the rest of his body. A heart with dying
muscle will not function correctly, and there may be severe
consequences for the circulation.
The above description contains almost everything you need to construct your
concept map, though you may wish to consult a textbook or web-site to
check some information. Remember the concept map does not contain
detailed information itself, just the topics that are relevant. We know you
have not yet studied them, but this does not stop you thinking about what
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Clinical Problem Solving Term 1 Workbook 1 Session One: Introduction to Clinical Problem Solving
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they should be from the above description, and in any case you may know
quite a lot already.
Your Concept Map:
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1.6 Self-directed Study
Complete concept map.
Review your understanding of a patient presenting with ‘chest pain’.
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Clinical Problem Solving Term 1 Workbook Session Two: Preparing for Assessments
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2 Session Two: Preparing for Assessments
2.1 Aim of the Session
The aim of this session is that you should understand the format of
examinations across the medical course, and the relationship of that format
to clinical problem solving.
2.2 Learning Outcomes for the Session
2.2.1 Specific unit learning outcomes addressed by this session
• Explain how concept maps will help you to prepare for assessments
• Describe and explain the educational rationale for the format of
written questions.
2.2.2 Detailed outcomes for the session
By the end of this session you should be able to:
• Describe the pattern of written and OSCE assessments over the
medical course, and in Phase 1 in particular.
• Describe how written questions are constructed
• Describe how written questions are marked
• Describe the ‘standard setting’ process for written questions
• Describe the grading process for written examinations
• Explain the progression rules for progression from year 1 to year 2 of
the course, and from Phase 1 to Phase 2.
2.3 Structure of the Session
1330-1430 Lecture: Assessments in the Medical Course
1430-1530 Group work: understanding outcomes and contexts
1530-1630 Group work: expressing yourself precisely
1630-1700 Self-directed Study: assessing literacy
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2.4 Lecture: Assessments in the Medical Course
This lecture will describe the assessment philosophy and structure for the
medical course at Buckingham. Full details are provided in the ‘Code of
Practice for Assessment’ which may be accessed on Moodle. The Code of
Practice is the definitive statement of rules and in the case of any small
disparities between the explanations in this lecture and the Code of Practice,
the Code of Practice will prevail, as the lecture is inevitably a short summary
of a complex system.
All written assessments in the medical course are in the same format, based
around case scenarios linked to a set of key presentations. The case scenario
introduces a patient, and will often cue the relevant key presentation of
condition. The questions that follow are constructed with reference to
concept maps that staff have in their own heads, by systematic or random
sampling from different parts. The best way to prepare for these
assessments is therefore to emulate the process by which the questions are
set, and prepare your own concept maps for each entry on the list. This will
allow you to prepare for virtually any question which may be asked. You will
not be able to construct all of these maps immediately, but you may begin
with some of the more obvious, and then build the set up over the next few
terms.
The full set of presentations/conditions are defined in the ‘Code of Practice
for Assessment’, and are reproduced below for convenience.
• Acute cough
• Chronic cough
• Acute or chronic chest pain
• Hypertension
• Palpitations
• Abdominal distention
• Abnormal blood glucose
• Abnormal weight
• Acute or chronic blood loss from the GI tract
• Change in bowel habit
• Chronic abdominal pain
• Jaundice
• No energy
• Acute abdominal pain
• Bleeding
• Pre or post-operative patient
• Acute renal failure
• Collapse
• Fits
• Headache
• Loss of consciousness
• Multiple trauma and/or head injury
• Shock
• Sudden or progressive breathlessness
• Swollen or painful leg
• Weakness
• Abnormal movement
• Chronic renal failure
• Confusion
• Falls
• Pallor
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• Problem with impaired voiding or incontinence
• Acute joint pain and/or swelling
• Back pain and/ or sciatica
• Burning pain
• Chronic joint pain and/or swelling
• Fractures/ dislocation
• Soft tissue injury or other trauma
• Addiction
• Affective disorders
• Personality disorders
• Psychosis
• Abnormal palpable lymph nodes
• Breast lump and/or pain
• Dying
• Dysphagia
• Haematuria
• Haemoptysis
• Lump and or problem in the
groin/scrotum/testis/penis
• Neck lump
• Nipple discharge or retraction
• Skin rash/lesion
• Change in hearing
• Earache
• Hoarse voice or stridor
• Mouth problems
• Nasal symptoms
• Numbness
• Painful and/or red eye
• Vertigo/ dizziness
• Visual disturbance
• Genital discharge
• In labour
• Pelvic pain and or mass
• Pregnant
• Problems relating to fertility or contraception
• Prolapse of uterus and/or rectum
• Vaginal bleeding
• Genetic and or congenital disorder
• Developmental delay
• Failure to thrive
• Fever/ infection
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2.5 Group Work: Outcomes of the Course
The outcomes of the medical course are defined by our regulator – the
General Medical Council, in the ‘Outcomes for Graduates’ 2018.
In the standards for medical education, again prescribed by the General
Medical Council in its document ‘Promoting Excellence – Standards for
Medical Education and Training’ (2015), you are required to achieve each of
these outcomes individually, and we are required both to provide the
opportunities for you to do, and to verify that you have through the
assessments of the course.
The course and the assessments must therefore be mapped (or
‘blueprinted’) to the outcomes, and if you keep focussed on the outcomes
you will have the best chance of succeeding.
You should spend the first hour of this group work familiarising yourselves
with the GMC outcomes and answering the following questions.
The outcomes for graduates are available through Moodle under the ‘GMC’
section of the navigation diagram. You should consult these as you go along.
Questions to test your understanding of concepts:
Discuss the principal differences between “Outcomes for graduates 2018”
Outcome 1 - Professional values and behaviours, Outcome 2 – Professional
skills and Outcome 3 – Professional knowledge
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CT2.1 Explain precisely what an ‘outcome’ is in this context.
CT2.2 Explain what is meant by the outcome 22(b) – ‘explain the relevant
scientific processes underlying common and important disease
processes.
CT2.3 Discuss what is meant by outcome 24(e) – ‘explain the sociological
aspects of behavioural change and treatment concordance and
compliance, and apply these models to the care of patients as part
of person- centgreendecision making.’
CT2.4 Discuss what is meant by outcome 23(b) – ‘integrate psychological
concepts of health, illness and disease into patient care and apply
theoretical frameworks of psychology to explain the varied
responses of individuals, groups and societies to disease’
CT2.5 Discuss outcome 14(h) – ‘Understand the processes by which
doctors make and test a differential diagnosis and be prepagreento
explain their clinical reasoning to others’. How does this outcome
relate to this unit?
CT2.6 What is the fundamental difference between the Outcomes under
the heading ‘Professional values and behaviours’ and those under
the heading ‘Professional skills’?
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CT2.7 Discuss what is meant by outcome 6(f) – ‘manage the uncertainty
of diagnosis and treatment success or failure and communicate this
openly and sensitively to patients, their relatives and carers’. How
will you and the medical school know that you have achieved this
outcome?
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2.6 Group Work: Expressing Yourself Concisely
In medical practice you will have to maintain accurate records of your clinical
work, through notes, requests, reports, referral and discharge letters. This
means you must be able to construct concise but accurate prose using
medical language in the correct way. This is a high level skill which takes
time to develop. The assessments early in the course are designed to drive
you to develop the skill of concise expression, as most of the questions are
‘constructed response’ – that is to say you have to write an answer rather
than select one from a list.
Doing well in these assessments depends on being able to express yourself
concisely and accurately, and it is common for students to lose marks
through poor expression even if their underlying knowledge is reasonably
sound. That said, however, the better you understand something the easier
it is to express it concisely, so the matter is not just one of language.
Try the following tasks in your group and see if you can work out collectively
how best to express yourselves. You are then asked to take an individual test
of literacy that will enable you to establish how much more work you need to
do, and whether you need additional support to do it. Please contact the
unit lead, if you feel that you need additional support.
Questions to test your understanding of concepts
CT2.8 What is the difference between the meaning of the words ‘principle’
and ‘principal’?
CT2.9 What is the difference between the words ‘practice’ and ‘practise’?
Which word will you use when in a sentence?
CT2.10 Describe in the simplest way you can all the possible moves that you
might make with a knight on a chessboard
CT2.11 Find someone in your group who is keen on football. Get her or him
to explain the offside rule to the group, then write a description of it
using the fewest possible words.
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CT2.12 Describe in as few words as possible, but with complete accuracy,
the differences between your right and left hands
CT2.13 Explain precisely, in as few words as possible, the differences
between your coccyx and your elbow.
CT2.14 Explain precisely, in no more than 10 words, the fundamental
biological difference between men and women
CT2.15 Explain precisely, in as few words as possible, the difference
between substances that are hydrophilic and those that are
hydrophobic?
CT2.16 Explain precisely, in as few words as possible, the difference
between a prokaryotic and a eukaryotic cell.
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2.7 Self-directed Study: Literacy
Writing concisely and accurately is a key skill for medicine, but is also
requigreento do well in the assessments of this course, as you will have to
write a lot of ‘short answers’. Experience has shown that not all new
students have this skill naturally, so the purpose of this group session is to
help you establish exactly how good you are at writing properly, and whether
you need to seek any further training to improve. Such services are available
to you. You should undertake this part of the session on your own.
If you have difficulty with these exercises, please speak to, or email the unit
lead.
Punctuation
CT2.17 Punctuate the following so that it makes full grammatical sense.
Other than changing lower case letters to upper case letters, you
should only insert punctuation. You should not delete, insert or
move letters or words.
1. my fiance abhik is a bit useless and doesnt seem to be able to cope
without me as I said to him yesterday a woman without her man is
nothing
CT2.18 Literacy
2. dear john i want a man who knows what love is all about you are
generous kind thoughtful people who are not like you admit to being
useless and inferior you have ruined me for other men i yearn for you i
have no feelings whatsoever when were apart i can be forever happy
will you let me be yours jane
Jane would like to end her relationship with John. Please punctuate this
statement.
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Tautological Repetition
The following quote is attributed to William of Ockham, a fourteenth century
Franciscan theologian, “Entia non sunt multiplicanda praeter necessitatem.”
It means, ‘Entities should not be multiplied beyond necessity’. Ockham was
referring to philosophy but you would be well advised to follow his
exhortation (which could be interpreted, ‘words should not be used
unnecessarily’) in all your future medical writing, including your ‘Narrative
Medicine’ dissertation. One way to avoid using too many words is to avoid
tautology. Tautology is the use of words which merely repeat something
already stated, as in ‘reverse back’.
CT2.19 Cross out redundant words, as you rewrite the following sentences,
so that meaning and grammatical correctness are maintained.
1. The Fire and Police services in the Milton Keynes area both share the
same aim, which still continues, to minimise down the number of lives
lost in vehicular traffic accidents.
2. Up until the present, all past records about victims of the previous
accident show that live survivors had been quickly transported, with
haste, to safe havens comprising of emergency tents and school
buildings.
3. Future prospects for new initiatives depended on the resulting outcome
of planned talks which have been cancelled.
4. Results and findings from research work which tested out methods of
raising up new antibodies further enhance and increase our knowledge
and understanding of illness and disease.
5. Doctors are exiting out of the association and forming an utterly unique
forum at this moment in time in order to free up personnel to make
future plans.
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Writing correctly
CT2.20 A student tells her personal tutor about the incident below. Retell
the following incident using formal, grammatically correct prose.
1. “We’re on the ward round and Dave’s Give me my stethoscope back and
the patient’s like No go away and he’s like please Mr Brown I really need
it and Tracey’s walking round the bed to get it from his other hand when
this consultant? comes up and he’s looking for his patient? and Trace
trips over the drip stand and it’s falling over and pulls? the cannula out
and the patient’s like screaming? and the consultant’s face is white as
his shirt”
2.8 Self-directed Study
Complete group work and literacy assessment. If you have difficulties with
this assessment, contact the unit lead. There is help available for those who
need it.
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Clinical Problem Solving Term 1 Workbook Session Three: Cystic Fibrosis
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3 Session Three: Cystic Fibrosis
3.1 Aim of the Session
The aim of this session is that you should continue to develop your
understanding of the development of expertise in clinical problem solving
through consideration of a genetic disease with a clear link between a
fundamental pathological process and its presentation.
3.2 Learning Outcomes for the Session
3.2.1 Specific unit outcomes addressed by the session
• Describe in general terms the process of clinical problem solving
• Apply the information on your ‘concept map’ to identify important
questions that may be asked in assessments relating to any clinical
presentation or condition, and how you will prepare to answer them
3.2.2 Detailed outcomes for the session
By the end of this session you should be able to:
• Explain the concept of ‘expertise’ and define ‘deliberate practice’
• Explain the concepts of ‘Type 1’ and ‘Type 2’ thinking and the role of
encapsulation in moving between them
• Construct a concept map defining and linking topics that enable you
to understand the presentation and prognosis of a patient with an
identifiable genetic disease
• Construct a concept map for the condition Cystic Fibrosis
3.3 Structure of the Session
1330-1430 Lecture: Cystic Fibrosis
1430-1500 Group work: Quiz
1500-1545 Group work: Concept map and presentation
1545-1615 Group work: Role play
1615-1700 Group work: Questions
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3.4 Lecture: Cystic Fibrosis
The overall aim of the medical course is that you should develop expertise in
the diagnosis and management of illness in your patients. The characteristics
of expertise have been well studied, and it is known that experts think
differently to novices when solving problems. When you are first learning
how to be a doctor, and are presented with a patient problem, you have to
think very deliberately and logically about that problem in order to solve it.
This is often called ‘type 2 thinking’, and when you are using it you will have
consciously to identify all material relevant to a problem, and then work
through it systematically in order to reach a solution. Type 2 thinking is slow
and deliberate, and does not always reach the correct solution even though
you will have to collect of lot of information from your patient and spend a
lot of time processing it.
As you develop expertise you will gradually move to ‘type 1 thinking’, where
most of the mental steps that you have to engage in consciously in type 2
thinking happen automatically without you really being aware of them. Your
problem solving will become both much more rapid and much more accurate
through this process known as ‘encapsulation’.
Developing expertise requires a long period of what is known as ‘deliberate
practice’. Deliberate practice involves frequent repetition of problem solving
tasks, so that underpinning ideas and knowledge are constantly re-visited in
many different contexts. It is vital to realise that deliberate practice is not
going over things again and again in exactly the same context (like revising
by going repeatedly through a set of notes), it involves continually revisiting
ideas by using them in different contexts.
Developing expertise takes a significant amount of time, and it takes a long
time to reach a high level of expertise. Your expertise will develop
throughout the medical course, and beyond – so the earlier you start the
quicker you will get there. In this session we will practise deliberately using
the example of the condition Cystic Fibrosis.
Cystic fibrosis is a genetic disease. It is an autosomal recessive condition,
which means that people with one copy of the defective gene may act as
carriers, and only those with two copies are affected. Around 1 in 25 people
are carriers, and about 1 in 2,500 is affected. The defective gene codes for a
membrane protein in epithelial cells which is involved in the transport of
chloride ions. The channel is crucial for normal movement of ions into and
out of epithelial cells. As a result secretions from epithelial cells become
more viscous (greatly thickened), which affects the function of many organs
as epithelial cells are found on all surfaces of the body that are outside or
lining tubes which open to the outside.
The lungs are particularly affected, and become very prone to infections
because of the abnormal accumulation of secretions. Recurrent infections
progressively damage the airways in the lungs, which in the past often led to
an early death. Many other organs are affected, including sweat glands in
the skin which secrete sweat with exceptionally high sodium content, the
cells lining the intestines, cells in the pancreas and cells lining the
reproductive tract, especially in men.
In the UK, all newborn babies are screened for cystic fibrosis as part of the
blood spot test (heel prick test), which is carried out soon after they are
born. If the screening test is positive, then they will need additional tests to
confirm that they have the condition: Sweat test – measures salt (sodium) in
sweat and genetic test (blood or saliva) to identify the faulty gene. These
tests can also be used in adults and children who didn’t have the newborn
test.
When genetic tests indicate that both parents are carriers, a child has a 1 in 4
chance of being affected and a 1 in 2 chance of being a carrier. There is some
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Clinical Problem Solving Term 1 Workbook Session Three: Cystic Fibrosis
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hope that the defective gene might be replaced in individuals using modern
molecular biology techniques.
Management of cystic fibrosis involves reducing the risk of respiratory
infection and managing the adverse effect of the condition upon other organ
systems, such as the intestines, pancreas and reproductive tract.
Sophisticated antimicrobial therapy combined with physiotherapy and other
treatment is essential to preserve lung function as long as possible.
To understand and explain this condition you must draw together
information about genetics, molecular biology, the cell biology of membrane
transport processes, the structure of affected organs, such as lungs,
intestine, pancreas and male reproductive tract, how the function of these
organs may be affected, how the lungs may become infected and with what,
how the antimicrobial drugs used to manage the condition work against
which organisms, how the lives and wellbeing of individuals are affected by
the disease, and the public health and health service implications of such a
common condition.
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Your Concept Map
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Clinical Problem Solving Term 1 Workbook Session Three: Cystic Fibrosis
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3.5 Group Work: Cystic fibrosis Questions
After creating the first draft of your concept map above, consider the
following questions by locating the area of your concept map that addresses
each question and then answering the question based on what you have
written in your concept map.
Now ask yourself whether you are satisfied with your answer based on your
concept map. If not, why not? How could you improve your concept map?
If you are satisfied, are there further questions which could be raised?
Remember, you are not limited in where you obtain information that you
feel is necessary. So, it should be possible for you to create a concept map
that addresses all possible questions by linking different concepts. It is not
about writing down everything in detail but about being able to infer
answers from concepts.
Cystic fibrosis is characterised by repeated chest infections due to thick
mucus that the person finds difficult to clear.
CT3.1 What type of epithelium lines the upper respiratory tract?
CT3.2 Name the unicellular glands within this epithelium which secrete
mucus.
A neighbour who has cystic fibrosis seems to be unwell frequently.
CT3.3 What non-pharmacological treatments are commonly used for
patients with cystic fibrosis?
CT3.4 What pharmacological agents are commonly used to combat lung
infections in cystic fibrosis?
You notice that your neighbour’s fingernails look “sort of swollen”.
CT3.5 What is the medical term for this appearance of the fingernails?
A patient with cystic fibrosis has to take pills to help him with his diet.
CT3.6 What are these pills likely to be?
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CT3.7 How does cystic fibrosis affect the fertility of males?
CT3.8 Generally, how would you ascertain whether a disease, such as
cystic fibrosis, is due to genetic or environmental factors?
CT3.9 What tests can be used to detect cystic fibrosis in the newborn?
CT3.10 Why is the mucus excessively thick in a patient with cystic fibrosis?
CT3.11 How is the transfer of water linked to sodium ion transport across
the cell membrane?
CT3.12 How is sodium ion transport linked to chloride ion transport?
CT3.13 What are the common pathogens causing respiratory infections in
patients with cystic fibrosis?
CT3.14 How does DNAase contribute to the chest symptoms in cystic
fibrosis?
CT3.15 What other conditions or diseases are associated with clubbing of
the fingernails?
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CT3.16 Which key enzyme is not secreted into the lumen of his small
intestine?
CT3.17 What is not being absorbed correctly in his small intestine?
CT3.18 Why is the pancreas compromised?
CT3.19 What is the similarity between what is happening in his pancreas,
and what is happening in his chest?
CT3.20 What is the inheritance pattern for cystic fibrosis?
CT3.21 How common is the carrier status?
CT3.22 What types of people are unlikely to be a carrier?
CT3.23 How common is the disease in the population?
CT3.24 Cystic fibrosis patients have a key protein defect. What is the effect
in the sweat glands of the lack of function of the key protein? How
is use made of the effect?
CT3.25 As cystic fibrosis is an inherited disease, does a person with a family
history of cystic fibrosis have the right to know the result of a test
on their newborn niece? Why?
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3.6 Role Play:
Scenario A
A young recently married couple present to you. The man has cystic fibrosis,
and they are concerned about how this may affect their ability to have
children.
Role Play: Explain the condition to this couple using role play, and discuss
how their fertility may be affected. Use terms that a lay person will
understand.
Scenario B
Davina is the second child of David and Pauline Brown. She failed to thrive as
a baby, and had repeated infections. She had a severe chest infection when
she was 5 months old. Her bowel motions are bulky and offensive. Cystic
fibrosis was suspected and confirmed with a sweat test (Sodium of 87
mmol/l; normal range < 30 mmol/l)
Role play: Explain the condition to her parents, and how their daughter may
be affected. Discuss what management may be available. Use simple terms
that will be understood by a lay person.
3.7 Self-directed Study
Complete group work questions.
Review your understanding of cystic fibrosis.
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Clinical Problem Solving Term 1 Workbook Session Four: Sickle Cell Disease
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4 Session Four: Sickle Cell Disease
4.1 Aim of the Session
The aim of this session is that you should continue to develop your
appreciation of how to apply biomedical understanding to clinical problem
solving in the context of a different genetic disease where there is a clear link
between specific underlying pathology and disease presentation and
progression.
4.2 Learning Outcomes for the Session
4.2.1 Specific unit outcomes addressed by the session
• Explain how concept maps will help you to prepare for assessments
• Apply, in particular, understanding of the concepts in this unit to the
diagnosis and management of patients who present with an
inherited disorder.
4.2.2 Detailed outcomes for the session
By the end of this session you should be able to:
• Explain how a single gene defect may lead to a wide range of
consequences for the patient.
• Construct a concept map to indicate the range and inter-connections
between topics relating to Sickle Cell Disease.
• Explain the inheritance pattern of sickle cell disease.
• Describe the possible presenting symptoms of a patient with Sickle
Cell Disease.
• Explain what happens to the oxygen dissociation curve in sickle cell
disease.
4.3 Structure of the Session
1330-1430 Lecture: Sickle cell disease
1430-1500 Group work: Quiz
1500-1545 Group work: Concept map for Sickle Cell Disease
1545-1615 Group work: Questions
1615-1700 Self-directed Study: Individual numeracy exercise
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4.4 Lecture: Sickle Cell Disease
Sickle cell disease is an autosomal genetic disorder affecting the pigment
which carries oxygen in the blood – haemoglobin. Changes in the structure
of haemoglobin affect the structure of greencells in ways which may produce
anaemia, which is relative lack of haemoglobin, and periodic ‘sickle cell
crises’, which can be very painful and debilitating.
Haemoglobin is made up of four subunits each containing a protein
surrounding haem, which contains iron and is capable of binding molecular
oxygen (i.e. the reaction is oxygenation, not oxidation). The capacity to bind
oxygen varies dramatically over a small range of oxygen levels, so that
oxygen is picked up readily in the lungs, but given up easily in the tissues, i.e.
the reaction is highly reversible.
The reversibility of the reaction depends critically on the overall structure of
the haemoglobin molecule, especially the relationships between the four
subunits – its quaternary structure. This may exist in two forms – ‘tense’
when oxygen binds relatively poorly, and ‘relaxed’ when oxygen binds easily.
The transition between these states is influenced by a number of factors,
most significantly the level of oxygen to which the molecule is exposed.
When oxygen levels are low the molecule is in the tense form, so binding the
first oxygen is difficult, but as oxygen levels rise the molecule moves to the
relaxed form, so that oxygen binds progressively more easily, rapidly
reaching saturation. As oxygen levels fall again and oxygen is given up the
molecule moves to the tense form driving the oxygen off vigorously to supply
the needs of the tissues. The transition to the tense form is also facilitated
by the more acid conditions prevailing in the tissues of the body.
In normal adult haemoglobin there are two alpha subunits and two beta
subunits. In sickle cell disease, there is a single amino acid change in the beta
chains, where a valine replaces a glutamic acid. This produces a form of
haemoglobin known as HbS. This is due to a single nucleotide change in the
DNA coding for the beta-chain, where thymine replaces adenine. This tiny
change affects the whole structure of the molecule so that when in the tense
form haemoglobin molecules tend to stick together (i.e. polymerise). This
polymerisation distorts the structure of the greenblood cells that contain the
haemoglobin, producing a characteristic ‘sickle’ shape, hence the name of
the condition.
Haemoglobin molecules enter the tense form when they lose oxygen, so over
repeated oxygenation/de-oxygenation cycles the greencells are distorted and
released from distortion. The membranes of the cells can only take so much
of this repeated stress, and eventually become stiff, so that the cells remain
distorted.
This cell damage cause greencells to last less long in the circulation, so that
they disappear faster than they can be replaced from the bone marrow. This
leads to anaemia, i.e. low haemoglobin in blood. In practice most sufferers
of sickle cell disease are not much affected by their anaemia, as they have
adapted to it, and HbS gives up oxygen more readily in the tissues, which
helps to keep up oxygen supply.
The cell distortion, however, generates another problem. Oxygen exchange
with the tissues occurs in vessels known as capillaries, which are tiny. Their
walls are a single layer of epithelial cells, and the lumen (hole down the
middle) is smaller than the normal diameter of a greencell. In order to pass
through most capillaries therefore greencells must distort. Sickled cells do
not readily distort, so cannot easily pass though capillaries. This may lead to
occlusion of small blood vessels, depriving tissues of oxygen which causes
local damage and, often severe pain. This tends not to occur all the time, but
episodically when some other event such as an infection, dehydration, cold,
acid blood, or low oxygen in the lungs increases the polymerisation and rate
of sickling, leading to a sickle cell crisis.
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The blockage of blood vessels in a sickle cell crisis may affect many different
tissues, but those most commonly affected are bone, producing severe pain,
structures in the chest, producing pleuritic pain and breathlessness, the
brain, where there may be partial paralysis and fits and the kidney, which
may cause serious disturbances of body chemistry.
The genetic change producing sickle cell disease occurs most commonly in
people of African origin, and it appears that having a single copy of the gene
helps to protect against malaria, a disease caused by a parasite which
invades greenblood cells during part of its life. This may explain why the trait
has persisted and is so common, as those with it are less likely to die from
malaria, and therefore more likely to pass the gene on to offspring.
The management of sickle cell disease involves a partnership between the
patient and doctor. The patient learns how to reduce factors which may
precipitate a crisis, and to recognise the onset of a crisis early. Crises are
managed with pain relief and oxygen treatment to increase the oxygenation
of haemoglobin, and so reduce polymerisation.
In the UK, all newborn babies are screened for sickle cell disease as part of
the blood spot test (heel prick test), which is carried out soon after birth.
Newborn babies have a different form of haemoglobin, HbF, and so do not
immediately demonstrate the effects of sickle cell disease. Some therapies
act to stimulate HbF production in adults, which may help the condition.
The psycho-social implications of sickle cell disease are considerable, as the
lives of sufferers are disturbed in unpredictable ways.
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Clinical Problem Solving Term 1 Workbook Session Four: Sickle Cell Disease
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Your Concept Map
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Clinical Problem Solving Term 1 Workbook Session Four: Sickle Cell Disease
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4.5 Group Work: Sickle Cell Disease Questions
After creating the first draft of your concept map above, consider the
following questions by locating the area of your concept map that addresses
each question and then answering the question based on what you have
written in your concept map.
Now ask yourself whether you are satisfied with your answer based on your
concept map. If not, why not? How could you improve your concept map?
If you are satisfied, are there further questions which could be raised?
Remember, you are not limited in where you obtain information that you
feel is necessary. So, it should be possible f