PGZ2024 Disease and Prevention
Summary of Cases and Lectures
Contents
General ..........................................................................................................................................................................3
Lecture 1 Introduction to course .........................................................................................................................3
Lecture 3 Introduction to genetics ......................................................................................................................4
Vaccines ..........................................................................................................................................................................5
Lecture 2 Prevention by vaccination ...................................................................................................................5
Case 1 Petition ..........................................................................................................................................................7
Tuberculosis ............................................................................................................................................................... 11
Lecture 4 Tuberculosis ........................................................................................................................................ 11
Case 2 The Asparagus Field ................................................................................................................................ 14
Emerging infections .................................................................................................................................................. 18
Lecture 5 (Re-)emerging infections ................................................................................................................... 18
Case 3 The “new normal” .................................................................................................................................... 20
Cardiovascular disease ............................................................................................................................................ 23
Lecture 6 CV-risk management & prediction models .................................................................................. 23
Case 4 Recommendations for the Minister .................................................................................................... 24
Cystic fibrosis.............................................................................................................................................................. 27
Lecture 7 Prenatal diagnosis & pre-implantation genetic diagnostics ..................................................... 27
Case 5 To test or not to test? ............................................................................................................................. 29
Down syndrome ........................................................................................................................................................ 31
Lecture 8 Down syndrome & ethics of prenatal testing .............................................................................. 31
Case 6 To test or not to test? ............................................................................................................................. 34
Cancer .......................................................................................................................................................................... 35
Lecture 9 Cancer screening ............................................................................................................................... 35
Case 7 Tennis Friends .......................................................................................................................................... 42
Alzheimer .................................................................................................................................................................... 46
Lecture 10 Dementia ........................................................................................................................................... 46
Case 8 Alzheimer’s disease: just part of ageing? ........................................................................................... 49
Colorectal cancer....................................................................................................................................................... 51
Lecture 11 Colorectal cancer survivors ........................................................................................................... 51
Case 9 The challenge of colorectal cancer survivorship .............................................................................. 55
1
,Diabetes....................................................................................................................................................................... 57
Lecture 12 Diabetes self-management ........................................................................................................... 57
Case 10 Taking care of yourself ......................................................................................................................... 60
Chronic low-back pain .............................................................................................................................................. 61
Lecture 13 Chronic low back pain..................................................................................................................... 61
Case 11 Chronic back pain ................................................................................................................................. 65
2
,General (Lecture 1 + 3)
Lecture 1 Introduction to course
Public health = preventing disease, prolonging life, and promoting health through the
organized efforts of society
- Health protection = management of environmental, food, toxicological and
occupational safety
- Disease prevention = minimizing the burden of diseases and associated risk factors
through prevention efforts
- Health promotion = enabling people to increase control over and improve their
health through social and environmental interventions
Disease prevention differentiates two categories:
- Infectious diseases → communicable
- Chronic diseases → non-communicable
➔ Transition from infectious to chronic diseases
o Development in society have led to changes in the prevalence of risk factors
o Medical and scientific progress has led to improved
detection/screening/treatment
Successes of public health are not always visible → especially in primary prevention: disease is
being prevented and is for that reason not present/prevalent = prevention paradox
Disease characteristics determine which preventive measure is possible and will likely be
most effective:
- Development + risk factors
- Symptoms + diagnosis
- Treatment + prognosis
- Consequences on QoL and participation
Types of prevention:
Prevention by stage of disease:
➢ Primary prevention – no disease
➢ Secondary prevention – subclinical disease
➢ Tertiary prevention – diagnosed disease
Prevention by target group:
➢ Universal (low risk) – general population
➢ Selective (medium-risk) – population at risk
➢ Indicated (high-risk) – early symptoms
3
, Lecture 3 Introduction to genetics
Mendel’s First law: Factors (genes) that determine phenotype come in pairs!
- Monohybrid cross = crossing for one characteristic
- Dihybrid cross = crossing for two characteristics
Law of independent assortment = if you have two characteristics, they never show up in
gametes together (so in this case: not a mixture of green and yellow, but or green or yellow)
→ but there are some exceptions
o Incomplete dominance
▪ Homozygous dominant (flower colour: white)
▪ Heterozygous (flower colour: pink)
▪ Homozygous recessive (flower colour: red)
o Co-dominance
▪ Heterozygous = both alleles are being present (flower colour: white +
red)
Dominant inheritance: a generation is usually not ‘skipped’: in each generation appear
disease
Recessive inheritance: in each generation appear “carriers”
X-linked inheritance:
Male: always Y from father → 50% chance of disease
Female: X from mother and X from father → 50% of being carrier
The anatomy of the genome
DeoxyriboNucleic Acid
- Adenine (A) + Thymine (T)
- Guanine (G) + Cytosine (C)
Every cell has 22 chromosome pairs and 2 sec chromosomes (XX or XY): diploid
Exception are gametes (egg/sperm): haploid
Genes code for proteins → Proteins determine phenotype
The physiology of the genome
Replication = DNA to DNA
Step 1: The enzyme helicase unwinds and separates the 2 DNA strands
Step 2: The enzyme primase attaches ‘primers’ on the 2 separated DNA strands
‘Primers’ are small pieces of complementary RNA:
Step 3: The enzyme polymerase binds to the separated DNA strands
Step 4: The enzyme polymerase completes, from primers onward, the DNA strands (from 5’ to 3’)
For every ‘A’ (old strand) a ‘T’ (new strand) and vice versa
For every ‘C’ (old strand) a ‘G’ (new strand) and vice versa
➔ Result: DNA replication is ‘semi-conservative’: Every daughter-DNA helix contains both an old and a
new DNA strand
4
Summary of Cases and Lectures
Contents
General ..........................................................................................................................................................................3
Lecture 1 Introduction to course .........................................................................................................................3
Lecture 3 Introduction to genetics ......................................................................................................................4
Vaccines ..........................................................................................................................................................................5
Lecture 2 Prevention by vaccination ...................................................................................................................5
Case 1 Petition ..........................................................................................................................................................7
Tuberculosis ............................................................................................................................................................... 11
Lecture 4 Tuberculosis ........................................................................................................................................ 11
Case 2 The Asparagus Field ................................................................................................................................ 14
Emerging infections .................................................................................................................................................. 18
Lecture 5 (Re-)emerging infections ................................................................................................................... 18
Case 3 The “new normal” .................................................................................................................................... 20
Cardiovascular disease ............................................................................................................................................ 23
Lecture 6 CV-risk management & prediction models .................................................................................. 23
Case 4 Recommendations for the Minister .................................................................................................... 24
Cystic fibrosis.............................................................................................................................................................. 27
Lecture 7 Prenatal diagnosis & pre-implantation genetic diagnostics ..................................................... 27
Case 5 To test or not to test? ............................................................................................................................. 29
Down syndrome ........................................................................................................................................................ 31
Lecture 8 Down syndrome & ethics of prenatal testing .............................................................................. 31
Case 6 To test or not to test? ............................................................................................................................. 34
Cancer .......................................................................................................................................................................... 35
Lecture 9 Cancer screening ............................................................................................................................... 35
Case 7 Tennis Friends .......................................................................................................................................... 42
Alzheimer .................................................................................................................................................................... 46
Lecture 10 Dementia ........................................................................................................................................... 46
Case 8 Alzheimer’s disease: just part of ageing? ........................................................................................... 49
Colorectal cancer....................................................................................................................................................... 51
Lecture 11 Colorectal cancer survivors ........................................................................................................... 51
Case 9 The challenge of colorectal cancer survivorship .............................................................................. 55
1
,Diabetes....................................................................................................................................................................... 57
Lecture 12 Diabetes self-management ........................................................................................................... 57
Case 10 Taking care of yourself ......................................................................................................................... 60
Chronic low-back pain .............................................................................................................................................. 61
Lecture 13 Chronic low back pain..................................................................................................................... 61
Case 11 Chronic back pain ................................................................................................................................. 65
2
,General (Lecture 1 + 3)
Lecture 1 Introduction to course
Public health = preventing disease, prolonging life, and promoting health through the
organized efforts of society
- Health protection = management of environmental, food, toxicological and
occupational safety
- Disease prevention = minimizing the burden of diseases and associated risk factors
through prevention efforts
- Health promotion = enabling people to increase control over and improve their
health through social and environmental interventions
Disease prevention differentiates two categories:
- Infectious diseases → communicable
- Chronic diseases → non-communicable
➔ Transition from infectious to chronic diseases
o Development in society have led to changes in the prevalence of risk factors
o Medical and scientific progress has led to improved
detection/screening/treatment
Successes of public health are not always visible → especially in primary prevention: disease is
being prevented and is for that reason not present/prevalent = prevention paradox
Disease characteristics determine which preventive measure is possible and will likely be
most effective:
- Development + risk factors
- Symptoms + diagnosis
- Treatment + prognosis
- Consequences on QoL and participation
Types of prevention:
Prevention by stage of disease:
➢ Primary prevention – no disease
➢ Secondary prevention – subclinical disease
➢ Tertiary prevention – diagnosed disease
Prevention by target group:
➢ Universal (low risk) – general population
➢ Selective (medium-risk) – population at risk
➢ Indicated (high-risk) – early symptoms
3
, Lecture 3 Introduction to genetics
Mendel’s First law: Factors (genes) that determine phenotype come in pairs!
- Monohybrid cross = crossing for one characteristic
- Dihybrid cross = crossing for two characteristics
Law of independent assortment = if you have two characteristics, they never show up in
gametes together (so in this case: not a mixture of green and yellow, but or green or yellow)
→ but there are some exceptions
o Incomplete dominance
▪ Homozygous dominant (flower colour: white)
▪ Heterozygous (flower colour: pink)
▪ Homozygous recessive (flower colour: red)
o Co-dominance
▪ Heterozygous = both alleles are being present (flower colour: white +
red)
Dominant inheritance: a generation is usually not ‘skipped’: in each generation appear
disease
Recessive inheritance: in each generation appear “carriers”
X-linked inheritance:
Male: always Y from father → 50% chance of disease
Female: X from mother and X from father → 50% of being carrier
The anatomy of the genome
DeoxyriboNucleic Acid
- Adenine (A) + Thymine (T)
- Guanine (G) + Cytosine (C)
Every cell has 22 chromosome pairs and 2 sec chromosomes (XX or XY): diploid
Exception are gametes (egg/sperm): haploid
Genes code for proteins → Proteins determine phenotype
The physiology of the genome
Replication = DNA to DNA
Step 1: The enzyme helicase unwinds and separates the 2 DNA strands
Step 2: The enzyme primase attaches ‘primers’ on the 2 separated DNA strands
‘Primers’ are small pieces of complementary RNA:
Step 3: The enzyme polymerase binds to the separated DNA strands
Step 4: The enzyme polymerase completes, from primers onward, the DNA strands (from 5’ to 3’)
For every ‘A’ (old strand) a ‘T’ (new strand) and vice versa
For every ‘C’ (old strand) a ‘G’ (new strand) and vice versa
➔ Result: DNA replication is ‘semi-conservative’: Every daughter-DNA helix contains both an old and a
new DNA strand
4
