EXAMPLES Flashcards
HERITABLE DISEASES
Cystic Fibrosis (CF) - Cystic fibrosis is a progressive, genetic disease that causes persistent lung infections and limits the ability to breathe over time. In people with CF, mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene cause the CFTR protein to become dysfunctional.
Multiple Sclerosis (MS)
- MS is an autoimmune condition. This is when something goes wrong with the immune system and it mistakenly attacks a healthy part of the body – in this case, the brain or spinal cord of the nervous system.
- In MS, the immune system attacks the layer that surrounds and protects the nerves called the myelin sheath.
- This damages and scars the sheath, and potentially the underlying nerves, meaning that messages travelling along the nerves become slowed or disrupted.
- Exactly what causes the immune system to act in this way is unclear, but most experts think a combination of genetic and environmental factors is involved.
POLYDACTYLY
- When polydactyly is passed down, it is known as familial polydactyly. This form of polydactyly typically happens in isolation, meaning a person may not experience any associated symptoms.
- Polydactyly may also be associated with a genetic condition or syndrome, which means it may be passed down along with a genetic condition. If polydactyly is not passed down, it occurs due to a change in a baby’s genes while it is in the womb.
Dementia, Huntington’s cannot be prevented but will lead to death
SELF INFLICTED DISEASES
INJURIES
Sport-related
Occupational
General
Chronic Obstructive Pulmonary Disorder (COPD)
- Chronic lung condition caused by smoking. Involves damage to air sacs and inflammation of airways.
Obesity
Obesity can lead to cardiovascular disease, hypercholesterolaemia, type 2 diabetes, cancers (colon cancer 3x risk), mental health, high blood pressure (hypertension), liver disease (NAFLD- non-alcoholic fatty liver disease)
⅔ of adults in England are overweight or obese
⅓: of primary school children
In 2017, 620,000 hospital admissions recorded obesity as a primary or secondary diagnosis
In 2018, there was an 18% increase in admission for obesity treatment
NICE
NICE: An organisation that passes recommendations for drug usage for medical professionals to follow. It evaluates the benefit of the drug on the individual as cost-effectiveness for the NHS.
1 QALY must cost no more than £12k
- Recommendations must usually be followed
- Practices are allowed to overspend if a new more expensive treatment is suggested by NICE.
CONFIDENTIALITY BREACH
The Mental health act - allows patients with mental health or psychiatric problems can be sectioned. Remove a patient’s autonomy to protect society at large.
CRIME AND DISORDER ACT 1998:
Legislates for the disclosure of information to the police.
Not a legal obligation though and the doctor does not have to breach confidentiality for this purpose every time.
Unless there is a serious risk to the public, doctors do not have to disclose crimes to the police
Important with IV drug use
DVLA is notified by a doctor if the patient refuses to report major changes to eyesight.
DISEASE NOTIFICATIONS:
The patient diagnosed with HIV doesn’t wish to tell their partner. A doctor can be break confidentiality to tell the partner.
The patient is encouraged to tell the partner themselves.
SOCIAL HISTORY
Certain ethnic groups are more susceptible to certain conditions.
Example: QRISK3: clinical tool which allows doctors to assess a patient’s cardiovascular risk. Includes ethnicity.
So by considering the wider population’s history of cardiovascular events (e.g. heart attack) you can more inform decisions about one patient’s risk and what medications they should be given.
COMPETENCE CHILDREN
Gillick competence and Fraser guidelines: used to assess the competence of children under 16, over 13. Can be used to provide sexual healthcare without parental knowledge.
CURES FOR DISEASES
Diabetes: A potential cure using stem cells or B-cell transplantation would remove all the costs and monitoring requirements
PD: much cheaper to stop the neurons from dying in the first place
PD
Parkinson’s disease:
TRAP Symptoms: Tremor at rest, rigidity, akinesia and postural instability
Cause: Death of dopaminergic neurons in the basal ganglia
Treatment: L-DOPA, given continually to replace the dopaminergic neuron death
But would be much cheaper to stop the neurons from dying in the first place
MND
Motor Neurone Disease:
motor neurons progressively die, patients become increasingly disabled, requiring increased care
MMR VACCINE
Example: Andrew Wakefield and the MMR vaccine
Investigated side effects and potential association with autism
The investigation was funded by parents whose children had autism and a law firm suing the MMR vaccine company. The flawed, small study had wide-reaching effects - which are still seen in measles outbreaks today
OBJECTIVITY
15-week amniocentesis: 1% risk of miscarriage
If one patient suffers a miscarriage, must remain objective, still recommend to the next
SCIENTIFIC METHOD
Scientific method: Hypothesis testing Controlled Statistical testing Blinded to eliminate bias Assessments for reproducibility Peer reviewed
HOLISTIC CARE
Stress: can exacerbate many medical conditions
E.g. Crohn’s disease: patients can experience flare-ups in symptoms that are stress-related
Heart palpitations: can be caused by underlying cardiovascular pathology (like arrhythmia)
Or: can be caused by stress and anxiety
If we treat or address the stress - can resolve the physical symptoms
RCT
Randomised Control Trials
Take a population of patients with the condition of interest: matched for age, sex, disease progression
Randomise them into groups: one group receives a novel drug, other current therapy.
Compare the outcomes statistically to see which has the best result
EVIDENCE-BASED MEDICINE
Hypertensive medications:
ACE inhibitors, β blockers, calcium channel blockers, diuretics
Series of Randomised controlled trials which determined, which drugs, in which combinations, are best for different groups of patient
ALLHAT and ASCOT trials
Recommendation: <55, white: calcium channel blocker
>55, afro-caribbean: diuretic first
GERIATRICS
Long term conditions account for 70% of the total health and care cost in England
It costs 5 times more to care for an 80-year-old, than a 30-year-old.
IMMUNOTHERAPY
Immunotherapy:
Harness the body’s own immune cells to selectively destroy tumour cells
Specific: so avoids side effects with traditional approaches (e.g. fatigue, hair loss, increased infection risk with chemo)
Checkpoint inhibitors have increased the 5-year survival of metastatic melanoma by 10x (5 to 50%)
IVF
IVF
Fertility options have grown in recent decades, expanding the number of individuals who can conceive.
Yamanaka: induced pluripotent stem cells (iPSC cells)
With iPSC cells and our ability to culture cell in vitro - could, in theory, take a skin cell and produce gametes (egg and sperm cells)
Patients over 35 cannot have IVF or if have failed a certain number of cycles
GENOME SEQUENCING AND CRISPR
We can now sequence genomes rapidly, identify many pathological variants at risk of being passed on to the next generation
With CRISPR, these harmful variants can be removed
CONTRACEPTIVES
Contraception and premarital sex were considered morally ‘wrong’ by some cultures: still frowned upon in certain religious cultures (Catholics, Bosoga tribe)
UTILITARIANISM
Utilitarianism: short term disruption is justified for the long term, greater benefit to more patients.
HIPPOCRATIC OATH
Hippocratic oath: duty to patients above everything else
Patient care > working conditions + personal grievances/circumstances
KNOCKOUT MOUSE
Genetic methods and the knockout mouse
Many genetic experiments start by observing differences in gene expression between a healthy and a ‘disease’ group.
Genes of interest can be identified through:
Linkage analysis
Genome-wide association studies
But these methods can only infer correlations: e.g. a gene is more common in one group. Not that the gene causes the pathology.
To assign causality, need genetic methods - knockout mouse.
Knockout models have provided insights in the functioning of important genes in physiology: example lipid metabolism
High levels of cholesterol/lipids predispose to atherosclerosis → ischaemic heart disease
- Literally manipulating the genes of a laboratory animal
BREAST CANCER GENES
Breast cancer: 5% genetic, 95% sporadic
Myriad genetics: sequenced 20,000 patients with a family history of breast cancer: they found a common mutation in chromosome 17q: BRCA1 (breast cancer gene 1)
60-85% lifetime risk of developing breast cancer if carrying the gene. 20-60% for ovarian cancer
40-50% of familial breast cancer
Similar processes repeated which led to the discovery of BRCA2 - males carriers were also shown to have a breast cancer risk.
Genes encode tumour suppressors - which were discovered through their role in breast cancer oncogenesis
CRIME AND DISORDER ACT 1998
Legislates for the disclosure of information to the police.
Not a legal obligation though and the doctor does not have to breach confidentiality for this purpose every time.
UTALITARIANISM IN MEDICINE
In seeking to maximize utility, utilitarianism can
justify the promotion and protection of a common or
collective good even when it is necessary to infringe
on certain individual preferences or moral “rights.”
Thus, utilitarianism could morally justify the forced
quarantine of people refusing to get vaccinated
during a pandemic, or even oblige them to get
vaccinated if this option would maximize utility.
