Section B Pathophysiology Flashcards
(64 cards)
1
Q
How can the cystic fibrosis be categorised (2 marks)?
A
- Single gene mutation
- Autosomal Recessive- not linked to the sex gene.
- Need an affected allele to manifest into CF.
- Mendelian inheritance- caused by inherited genetic material rather than a gene mutation caused by environmental factors.
2
Q
Explain the pattern of inheritance for CF (3 marks).
A
- CF is an autosomal recessive gene mutation
- Not sex linked
- Both parents needs to be carriers of the mutated gene to get CF
- If you are heterozygous for the affected CTFR allele then you become a carrier
- 1 in 4 chance of having CF, 50% chance of being a carrier, 25% chance of not having (if your parents are carriers)
3
Q
Explain the change/mutation in the genetic code associated with CF (3 marks).
A
- A point mutation causing a change in a codon in chromosome 7.
- Caused by a deletion of 3 base pairs (phenylalanine)
- Frameshift removal mutation
- CFTR protein misfolds affecting the chloride channel which affected fluid movement and balance in the cell
4
Q
Critically discuss common symptoms and signs associated with CF across the lifespan and relate these to the underlying genetic disorder (10 marks).
A
- Children born with meconium ileus where extremely thick meconium blocks last part of small intestine so causes necrosis of the tissue
- Chronic cough and lung infection due to the viscous mucous trapping pathogens and unable to expel from body so increases rate of infections
- Poor weight gain and steatorrhea: fatty foul smelling stool due to mucous blocking the ducts of the pancreas so prevent digestive enzymes breaking down and gaining nutrients etc
- Fertility issues: nearly all men with cystic fibrosis are infertile due to absence of vas deferens and women will have difficulty in getting pregnant due to thick cervical mucous
5
Q
Critically discuss diagnosis, management and prognosis of CF (10 marks).
A
- Diagnosis: new born screening so heel prick blood test. Sweat test so measures amount of chloride in sweat
- Management: chest physiotherapy to clear mucous in airways, inhaled therapies like salbutamol which will dilate airways and mucolytics to thin the mucous. Laxatives if they have bowel obstructions. Creon: mentioned later
- Prognosis: poor with some surviving past childhood. If interventions are implicated early enough then possible to improve quality of life.
6
Q
Critically discuss psychosocial/holistic implications in caring for a patient with CF (10 marks).
A
- CF is autosomal recessive, this might impact the relationships affected people for with each other, e.g having to be mindful of whether you’re romantic partner is a carrier or not
- Patients with cf might need emotional support to acknowledge and come to terms with the diagnosis. Fear of how this impacts their family and career might cause low mood and emotional distress requiring psychiatric intervention such as talking therapies or medication
- financial- if a baby is diagnosed with cf it might impact the family financially as they may require more care e.g. more sick days due to higher prevalence of resp infections which may impact parents income/ job status (may want to stay at home to care for child rather than sending to nursery due to compromised immune system)
- Delayed development might affects children socially, might find it hard to keep up with other children their age (e.g. participating in games/ p.e / physical activities) making it harder to make friends/ build those relationships
- Delayed sexual maturity and shorter life expectancy can link to infertility (males) and have emotional impacts that can impact the patient from building their own family e.g. fear of not being able to fulfil the parent role due to life expectancy, choosing to adopt rather than having a biological child
7
Q
How can the genetic disorder (Huntingtons) be categorised (2 marks)?
A
• Autosomal dominant meaning it’s not sex linked
• Single gene mutation
• Mendelian Inheritance- linked to a single gene mutation rather than environmental change
8
Q
Explain the pattern of inheritance for Huntingtons (5 marks).
A
• Autosomal dominant- not linked to sex
• Can manifest into disease with only 1 mutated gene
• When you have a parent with an mutated allele, there’s 50% chance of developing Huntington’s Disease
9
Q
Explain the change/mutation in the genetic code associated with Huntingtons (3 marks).
A
• Only one mutated allele is required for the disorder to present
• Duplication of the CAG codon which creates a protein that’s too long and therefore misfolds creating cell instability
• Insertion
10
Q
Critically discuss common symptoms and signs associated with Huntingtons across the lifespan and relate these to the underlying genetic disorder (10 marks).
A
• The mutation in the huntingtin protein leads to incorrect apoptosis and poor transport
• Huntingtons disease affects the cortex and the striatum of the brain which affects movement and cognitive function as a result a patient is likely to experience symptoms such as jerking, chorea and memory issues.
• symptoms affect individuals thoughts, including delusions, confusion and issues processing information- cerebral cortex
• Individuals movement- cerebellum, pathways within the cerebellum. Changes in neurotransmitters. Athetosis, poor coordination
• Personality- irritability, depressed mood.
• Memory & nutrition (e.g. chewing and swallowing)
11
Q
Why would taking medications such as nebulisers and inhalers used for those with cystic fibrosis. You should aim to identify and explain 2 active medications (4 marks).
A
Salbutamol is used as a bronchodilator and so will dilate the airways in order for gas exchange to become more effective whereas with the viscous mucous, it could have been affected. Inhaled mucolytics can be used to decrease the viscosity of the airway secretions etc
12
Q
What is Creon and explain the pathophysiology that means they must take it with each meal (5 marks)?
A
Used to treat exocrine pancreatic insufficiency so where the pancreas doesn’t release enough digestive enzymes to break down the food as the viscous mucous blocks the pancreatic ducts from releasing these enzymes. Creon needs to be taken with every meal and snack to work as expected so digestive enxymes needs to mix with food and enter the stomach and small intestine at the same time. This allows food to be digested effectively and so the essential macronutrients etc can be absorbed into the body.
13
Q
Identify the organs affected by Cf and explain using physiology how cf affects their function.
A
- Lungs: faulty CFTR protein causes reduced chloride and water secretion into airway so thick mucous
- Pancreas: mucous blocks pancreatic ducts so can’t release the digestive enzymes into the small intestine so leads to malabsorption, steatorrhea
- Liver: mucous blocks the bile ducts so hepatomegaly and jaundice
- Sweat glands: mutation prevents the reabsorption of chloride ions in sweat glands so excessive salt loss in sweat leading to dehydration
- Reproductive system: male infertility due to blockage of vas deferens and infertility due to this
- Bones: malabsorption of vitamin D so poor calcium absorption leading to osteoporosis
14
Q
Critically discuss psychosocial/holistic implications in caring for a patient with Huntingtons (10 marks).
A
• Many psychological/ holistic implications when caring for a patient with Huntingtons disease.
• Depression- this could be due to the nature of the disease. It is a progressive degenerative disease so it will not get better, this would be hard for a patient to come to terms with. Can be especially difficult as they will have seen family experience the same.
• Anxiety- anxious around what may happen to them, need support in understanding what may happen to them if they feel comfortable knowing.
• In order to support them psychologically they could benefit from things such as therapy, on an individual or family basis. Further support may be needed such as antidepressants which could include ssris, sertraline. Could struggle with talking. May benefit from genetic counselling. Support groups.
• Medication may not be beneficial as it wont resolve the cause, which can be the same for counselling and therapy however the therapy and counselling may help them come to terms with their disease and what will happen to them.
• They may need other support such as a dietician as when the disease progresses they may experience issues with swallowing, may need meals to be in liquid form of need supplements so that they are gaining all the nutrients that they need.
• Physiotherapist/ occupational therapist- may need support adapting to new life, exercises, aids and equipment.
• GP- to support with coordinating care.
15
Q
When being diagnosed/ tested for Huntington’s disease, what does being positive for CAG of 42 mean (5 marks).
A
• Huntington’s disease manifests when there’s full penetrance of the CAG codon.
• CAG codon is for glutamine.
• Full penetrance is where the codon repeats more than 36 times.
• When there’s too many codons they misfold.
• The Huntingtons protein becomes dysfunctional and disrupts cell transport.
• This manifests into Huntingtons disease.
• CAG of 42 means the codon repeated 42 times.
16
Q
How can sickle cell be categorised (2 marks)?
A
• Autosomal recessive, not sex linked & need 2 copies of the variant allele
• Mendelian pattern of inheritance meaning it is due to genetic inheritance rather than a genetic mutation due to environmental impact
17
Q
Explain the pattern of inheritance for sickle cell (5 marks).
A
• Parents either heterozygous/ carrier since they were asymptomatic
• Each sibling has 25% of being affected, 50% carriers, 25% unaffected
18
Q
Explain the change/mutation in the genetic code associated with sickle cell (3 marks).
A
- A single change in the DNA of the HBB gene, which makes the beta-globin chain,
- a non-conservative mutation. This means that one DNA base, adenine (A), is replaced with thymine (T) which creates valine instead of glutamic acid
- the hemoglobin molecules stick together (polymerisation)
and form long, rigid chains, which leads to problems with the blood cells.
19
Q
Critically discuss common symptoms and signs associated with sickle cell aross the lifespan and relate these to the underlying genetic disorder (10 marks).
A
- Jaundice due to increased breakdown of sickled red blood cells causing elevated bilirubin levels and hence jaundice
- Painful swelling due to small vessel and tissue infarction so blockage of blood flow to hands and feet causing pain
- Delayed growth and development due to chronic anaemic so limits body’s ability to transport oxygen and support normal development
- Eye issues: sickle cell retinopathy so obstruction of blood vessel in retina caused by sickled red blood cells and when they become blocked can lead to damage of retina
- Priapism: long often painful erection of penis due to blocked blood flow and increased pressure to the penis
20
Q
Critically discuss diagnosis, management and prognosis of sickle cell (10 marks).
A
- Diagnosis: new born heel prick test, genetic testing, blood count to determine reticulocyte count to see severity
- Management: analgesics like morphine and penicillin when they’re in crises, vaccinations for influenzas for example, regular eye exams and blood transfusions if patients have severe SCD
- Prognosis: reduced life expectancy due to complications like strokes, organ failure and access to treatment. Recurrent pain crises can be a long term issue they have to face so can affect their life expectancy
21
Q
If a patient experiences a ‘crisis’ at 8 months of age. What is the pathophysiology underpinning this term (3 marks).
A
Small vessels and tissue infarction due to the polymerisation of red blood cells causing sickled red blood cells to aggregate together to form long rigid polymers. Lack of blood flow causing the crises which is pain
22
Q
Why would a bone marrow transplant help a patient with sickle cell (2 marks).
A
Bone marrow transplant replaces the unhealthy blood forming stem cells with healthy ones so creates a greater rate of reticulocytes being formed and hence will allow sufficient oxygen to be transported around the body. Greater non-sickled red blood cells in the body allows for fewer pain crises..
23
Q
A patient diagnosed with sickle cell has been diagnosed with acute chest syndrome, how may this patient have presented to clinicians to lead to this diagnosis (5 marks)?
A
Chest pain happens because of a blockage in the blood flow, caused by sickle-shaped red blood cells that clump together. This blockage prevents oxygen from reaching certain parts of the lungs, leading to pain and low oxygen levels.
Fever is common during this kind of episode because the spleen, which normally helps fight infections, isn’t working properly. If the spleen is enlarged (called splenomegaly), it can’t do its job as usual, so the body might develop a fever to show it has an infection.
24
Q
Identify the organs affected by the named disorder (sickle cell) and explain using physiology how it affects their function.
A
- Eyes
- Reproductive system: priapism. Increased risk of infections as spleen which usually helps to fight infections are usually damaged in sickle cell disease- pre eclampsia can occur
- Acute chest syndrome so respiratory system
- Spleen: splenomegaly
25
Critically discuss common symptoms and signs associated with the named genetic disorder (Familial Hypercholesterolemia) across the lifespan and relate these to the underlying genetic disorder (10 marks).
- Atheroma- a build up of fatty material in your coronary arteries, making your arteries narrower so its harder for blood to flow to vital organs
- Heart attack or stroke at a young age can indicate FH (or other family members)
- Family members being diagnosed with FH could suggest a reason for testing
- Swelling of the knuckles, knees or Achilles tendon (back of ankle)- from a build up of excess cholesterol
- Pale yellow lumps around eyes: excess cholesterol
- Pale white ring around iris: Corneal arcus
26
Critically discuss diagnosis, management and prognosis of the named genetic disorder (Familial Hypercholesterolemia) (10 marks).
Diagnosis: Cascade Testing by tracing the relatives of the know n cases being treated in lipid clinics
Routine blood test to check cholesterol levels
Genetic testing- blood sample or mouth swab from inside cheek
Management: Statin lowering therapy causing significant low CHD rate and improved life expectancy
Lipid Lowering agents
Life style changes: Hugh fibre diet, plant based proteins, regular exercise, limit salt and alcohol, smoking cessation
Prognosis: people with FH have higher risk of heart disease and death at a younger age, Heart attack a before 50 (men) or 60 (women).
When undiagnosed can cause death before 20 years old
27
How can the genetic disorder (Muscular Dystrophy) be categorised (2 marks)?
- Duchenne muscular dystrophy is a X-linked recessive disorder
- A single point mutation in the Dystrophin protein
- Nonsense mutation, premature stop protein building instructions
- Can be a De novo mutation (spontaneous genetic mutation) rather than being inherited from a carrier parent
28
Explain the pattern of inheritance for the named disorder (Muscular Dystrophy) (3 marks).
- X Linked recessive disorder
- If only one X chromosome is affected in females, you can be a carrier
- Because males only have one X chromosome, a mutation in that single X chromosome is sufficient to cause DMD.
- If a carrier mother has a son, there is a 50% chance he will inherit the mutated gene and have DMD. If she has a daughter, there is a 50% chance she will inherit the mutated gene and be a carrier.
29
How can the genetic disorder (Familial Hypercholestrolemia) be categorised (2 marks)?
Autosomal Dominant
Mendelian inheritance
Single point mutation in chromosome 19
30
Explain the pattern of inheritance for the named disorder (Familial Hypercholesterolemia) (3 marks).
When parents have FH, there is a 50% chance that their child will have it
Autosomal Dominant
Can manifest into disease with only one mutated allele.
Mendelian Inheritance
31
Critically discuss diagnosis, management and prognosis of the named genetic disorder (Atrial Fibrillation) (10 marks).
- Diagnosis: ECG, Echocardiogram, Chest X-ray, Blood test, checking pulse
- Management: Lifestyle changes: limiting alcohol and caffeine, smoking cessation
Medications: Beta Blockers, anti-arrhythmic drugs, ablation (Removal or destruction of tissue)
Fitting in a pace maker
Cardioversion: using electricity or medication to restore a normal heart rate rhythm
- Prognosis: There isn’t statistical evidence for the life expectancy of patients who have AF though it does decrease overall due to the increased risks of heart attack and stroke.
32
How can the genetic disorder (Alpha 1 antitrypsin deficiency) be categorised (2 marks)?
Autosomal CODOMINANT (two different variants of the gene (alleles) may be expressed, and both versions contribute to the genetic trait.)
Mendelian Inheritance
Single point gene mutation
33
Explain the pattern of inheritance for the named disorder (Alpha 1 antitrypsin deficiency) (3 marks).
Autosomal CODOMINANT (two different variants of the gene (alleles) may be expressed, and both versions contribute to the genetic trait.)
Each child has a 25% chance of inheriting two normal genes, a 50% chance of being a carrier, and a 25% chance of inheriting two mutated genes.
34
Critically discuss psychosocial/holistic implications in caring for a patient with the named genetic disorder (Muscular Dystrophy) (10 marks).
- Occupational Therapy: Helps individuals with DMD maintain independence with daily activities and assistive devices.
- Physical Therapy: Focuses on maintaining muscle strength, flexibility, and mobility through stretching, exercise, and adaptive equipment.
- Respiratory Therapy: Addresses breathing difficulties, including the use of assistive devices and techniques.
- Orthopaedic Interventions: Address scoliosis and joint contractures through surgery or bracing.
- Exercise: Gentle exercise is recommended to prevent muscle atrophy and maintain overall health.
- DMD liaison nurse to communicate care need with children's schools
- GP for coordination of care
35
Critically discuss diagnosis, management and prognosis of the named genetic disorder (Muscular Dystrophy) (10 marks).
Diagnosis:
- blood tests for creatine kinase (CK) levels (elevated levels indicate muscle damage)
- genetic testing to identify mutations in the dystrophin gene
- muscle biopsies (check dystrophin levels)
- Family history
Management:
- Corticosteroid: medication to slow down muscle wasting
- ACE inhibitors and beta-blockers: to treat cardiomyopathy
- Physical Therapy: Focuses on maintaining muscle strength, flexibility, and mobility through stretching, exercise, and adaptive equipment.
- Respiratory Therapy: Addresses breathing difficulties, including the use of assistive devices and techniques.
- Orthopaedic Interventions: Address scoliosis and joint contractures through surgery or bracing.
- Exercise: Gentle exercise is recommended to prevent muscle atrophy and maintain overall health.
Prognosis:
- MD is a severe type of MD and often shortens life expectancy. Most people with DMD will reach adulthood. They are, however, more likely to die from heart or respiratory failure before or during their 30's
36
Explain the change/mutation in the genetic code associated with the named disorder (Familial Hypercholesterolemia) (3 marks).
- Familial hypercholesterolemia is a defect on chromosome 19.
- A genetic mutation which makes the liver less able to remove excess LDL (bad cholesterol)
- leading to high cholesterol levels and an increased risk of heart disease
37
Critically discuss common symptoms and signs associated with the named genetic disorder (Muscular Dystrophy) across the lifespan and relate these to the underlying genetic disorder (10 marks).
- In babies: difficulty lifting/ controlling head (beyond the newborn stage)
- Children present with Gowers signs (difficulty running/walking and using all fours)
- Proximal limb weakness
- calf pseudohypertrophy: The calf muscles may appear larger than normal due to fat and connective tissue buildup, not actual muscle growth.
- Myocardium is affected: Heart muscle weakness and enlargement (cardiomyopathy)
- Scoliosis: Curvature of the spine can occur due to muscle weakness in the back.
38
Identify the organs affected by the named disorder (Muscular Dystrophy) and explain using physiology how it affects their function.
- Skeletal Muscles: progressive muscle weakness and degeneration, affecting the skeletal muscles, leading to difficulties with movement and mobility.
- Heart (Cardiomyopathy):The absence of dystrophin, a protein crucial for muscle function, can weaken the heart muscle, leading to cardiomyopathy, which can cause irregular heartbeats, heart failure, and other cardiac problems.
- Lungs: Weakness in the muscles of the rib cage and chest can lead to breathing difficulties, increased susceptibility to respiratory infections, and potentially respiratory failure.
39
How can sickle cell be categorised (2 marks)?
Autosomal recessive , an individual must inherit two copies of the gene (one from each parent)
It involves the production of abnormal haemoglobin, specifically haemoglobin s.
Mendelian inheritance
Single gene mutation
40
Critically discuss psychosocial/holistic implications in caring for a patient with sickle cell disease (10 marks).
Emotional and psychological stress- chronic pain, frequent hospital visits, unpredictable. Experience anxiety and depression. Support could include talking therapies and medication such as ssris if necessary. Coming up with coping mechanisms in therapy. Impacts quality of life.
Social- may isolate themselves, pain crises and fatigue, could be difficult to maintain relationships and a job. Which could lead to financial difficulties. Impacts quality of life.
Access to healthcare- understanding of sickle cell, requires multidisciplinary care. Complex disease, hcps may lack sensitivity, many symptoms you cannot see by eye. Lack of education and understanding of their own disease.
41
Explain the change/mutation in the genetic code associated with the named disorder (Alpha 1 antitrypsin deficiency) (3 marks).
- Caused by mutations in the SERPINA1 gene, which controls the production of alpha-1 antitrypsin (AAT) protein.
– results in defective protein- misfolded alpha-1 antitrypsin protein that cannot be properly secreted from the liver into the bloodstream.
42
Critically discuss common symptoms and signs associated with the named genetic disorder (Alpha 1 antitrypsin deficiency) across the lifespan and relate these to the underlying genetic disorder (10 marks).
Symptoms in early life- wheezing and respiratory distress.
Janice due to the accumulation of misfolded antitrypsin in the liver which can lead to bilirubin buildup, leading to jaundice. Liver enlargement due to the stress on the liver.
Symptoms in adolescents and adulthood- COPD due to unchecked neutrophil elastase activity which damages the alveolar walls in the lungs leading to airflow limitation.
Shortness of breath (dyspnea)- lung tissue progressively destroyed.
Chronic cough and producing mucous due to information and irritation in airways due to imbalance between neutrophil elastase and alpha 1 antitrypsin.
Chronic liver disease – accumulation of misfolded AAT.
Older adults- Frequent respiratory infections due to impaired lung defence mechanisms.
Liver failure due to cirrhosis.
Liver cancer.
43
Critically discuss diagnosis, management and prognosis of the named genetic disorder (Alpha 1 antitrypsin deficiency) (10 marks).
Diagnosis- Patients often present with symptoms of copd, cough, shortness of breath and wheezing which may appear earlier than the general population, this is also the same with liver disease.
Usually through genetic history.
Test- serum AAT levels – levels below 50mg/dL suggest AATD. Genetic testing and
Management-
Supporting patients to quite smoking as this with accelerate lung damage.
Pulmonary care- using bronchodilators, steroids and oxygen therapy.
Vaccinations against things such as influenza and hep a and b in order to prevent further lung and liver damage/ disease.
Lung/ liver transplant.
ATT replacement therapy
Prognosis-
Depends on the severity of the disease and lifestyle choices such as smoking.
44
Critically discuss psychosocial/holistic implications in caring for a patient with the named genetic disorder (Alpha 1 antitrypsin deficiency) (10 marks).
Anxiety and depression- chronic and potential a life threatening nature of AATD induce anxiety- ssris / anti anxiety medications.
Genetic counselling
Cognitive/ emotional strain- dealing with a genetic disorder feelings of guild and frustration. Implications for their children.
Social isolations- difficulty participating in regular activities. Breathlessness and fatigue- reduce social interactions- loneliness.
Stigma – rare condition- lack of public awareness.
Financial- may prevent patients from working
45
Identify the organs affected by the named disorder (Alpha 1 antitrypsin deficiency) and explain using physiology how it affects their function
- Lungs- ATT protects the lungs from damage cause by an enzyme called neutrophil elastase, which breaks down proteins like elastin in the lung tissue.
- Without enough AAT, neutrophil elastase damages the lung tissue, especially the alveoli. Leads to emphysema causing shortness of breath, chronic cough and difficulty breathing which can lead to COPD.
- Liver - AAT is produced in the liver m where it helps to protect liver cells from damage. A normal AAT then accumulates in the liver cells causing liver damage, cirrhosis, liver cancer and neonatal jaundice, can lead to liver failure.
46
How can the genetic disorder (Beta thalassemia) be categorised (2 marks)?
- Autosomal Recessive
- Single gene mutation
- Mendelian Inheritance
47
Explain the pattern of inheritance for the named disorder (Beta Thalassemia)
- Autosomal Recessive
- When a parent has BT, there is a 50% likelihood that their child will be a carrier
- Need 2 mutated alleles to have beta thalassemia
48
Explain the change/mutation in the genetic code associated with the named disorder (Beta Thalassemia) (3 marks)
- Blood disorder causing the body to produce less haemoglobin
- inherited when both parents pass on a faulty copy of the HBB gene
- The HBB gene provides protein building instructions for a protein called beta-globin.
- This is a component of heamoglobin, without it the heamoglobin doesn’t get produced properly causing a shortage of RBC
49
Critically discuss common symptoms and signs associated with the named genetic disorder across the lifespan and relate these to the underlying genetic disorder (Beta Thalassemia) (10 marks).
Children can experience:
- slow growth and development due to the anemia (failure to thrive)
- Since there’s less/ abnormal heamoglobin anemia is likely , this can present as fatigue, pallor (pale skin), dizziness, shortness of breath
- Jaundice: Yellowing of the skin and whites of the eyes can occur due to increased breakdown of red blood cells.
- Belly Swelling: An enlarged spleen and liver (splenomegaly and hepatomegaly) can cause abdominal swelling.
- Bone Deformities: Overexpansion of bone marrow to produce more red blood cells can lead to changes in the shape of bones in the face and head.
In adults:
- Heart problems: Irregular heartbeats, cardiomyopathy, heart failure, and problems with the heart muscle
- Liver problems: Swelling and scarring of the liver (cirrhosis)
- Bone problems: Thin, brittle, and deformed bones, including facial bone deformities
- People with only one faulty HBB gene in each cell have mild anemia, which is called thalassemia minor
50
Critically discuss diagnosis, management and prognosis of the Huntingtons disease (10 marks).
Diagnosis: Often presents in adulthood with symptoms such as chorea and balance issues. Cognitive- memory loss and impaired judgement.
Most effective diagnostic test is genetic testing. Test for that gene mutation, looking fir abnormal CAG repeat expansion in the gene.
Management:
Psychological symptoms- SSRIs. Mood stabilisers, used for it it ability to aggression. In some cases antipsychotics- psychotic symptoms or severe mood changes.
Cognitive symptoms- cognitive therapy- to slow down the progression of symptoms.
Physical therapy- to maintain motor function and maintain muscles.
Occupational therapy- assist with activities of daily living,
Speech therapy- help with speech and swallowing.
Psychological- counselling and support groups or CBT.
Genetic counselling- understanding implications of passing on the disease.
Prognosis: Huntington's disease is a fatal condition that usually progresses over 15 to 20 years. It's caused by a faulty gene on chromosome 4.
51
Identify the organs affected by Huntingtons disease and explain using physiology how it affects their function.
Brain-
Cerebral cortex – responsible for higher brain functions such as cognition, reasoning and voluntary motor actions- cognitive decline and psychiatric symptoms.
Muscles- the brains motor control centres becoming damaged-n decline in movement, posture which are controlled by signs as from the brain, motor cortex
Lungs- Usually regulated by signals from the brain and muscles.- leads to difficulties in swallowing and breathing . – difficulties with swallowing then impacts the digestive system.
52
what is a cell
a basic structural and functional unit in all known living organisms
The smallest living units of an organism
53
eukaryotic cell
an organism within a complex cell
Includes: animals, plants and fungi
DNA is divided into several linear bundles (chromosomes)
- Nucleus
- Membrane bound
- Bigger and more complex
- Mitosis or Misosis
54
Critically discuss diagnosis, management and prognosis of the named genetic disorder (Beta Thalassemia) (10 marks).
Diagnosis: Full Blood Count, Genetic Testing, Family History
Management: Regular blood transfusion to increase RBC count
Iron Chelation to prevent Iron overload (from transfusions)
Splenectomy: if spleen becomes enlarged
Bone Marrow transplant: more RBC with normal stem cells that can remove LDL
Prognosis: Reduced but with proper management and treatment, patients can survive until their 50’s-60’s
55
How can the genetic disorder (Atrial Fibrillation) be categorised (2 marks)?
- autosomal dominant pattern, meaning a single copy of a mutated gene can cause the condition
- De novo inheritance autosomal dominant pattern, meaning a single copy of a mutated gene can cause the condition
- Single gene mutation
56
Explain the pattern of inheritance for the named disorder (Atrial Fibrillation) (3 marks).
- autosomal dominant pattern, meaning a single copy of a mutated gene can cause the condition
- De novo inheritance autosomal dominant pattern, meaning a single copy of a mutated gene can cause the condition
- 30% of all people who have atrial fibrillation without an identified cause have a history of the condition in their family
57
Identify the organs affected by the named disorder (Beta Thalassemia) and explain using physiology how it affects their function.
- Spleen: can become significantly enlarged as it tries to compensate for the reduced production of red blood cells.
- Liver: Frequent blood transfusions can cause iron buildup in the liver, causing damage and potentially leading to liver disease (cirrhosis).
- Heart: Iron buildup in the heart muscle can lead to abnormal heart rhythms, heart enlargement, and even heart failure.
- Hormone Imbalance: Iron overload can damage hormone-producing glands, leading to problems like diabetes, hypothyroidism, and delayed puberty.
- Bones: The body's attempt to produce more red blood cells can lead to bone marrow expansion, causing bones to become thinner and more fragile, leading to bone deformities, especially in the face and limbs
58
Identify the organs affected by the named disorder (Familial Hypercholesterolemia) and explain using physiology how it affects their function.
- Heart: High levels of LDL cholesterol can lead to plaque buildup in the arteries, potentially blocking blood flow to the heart muscle and causing heart attacks or coronary heart disease
- Brain (?) LDL cholesterol buildup in arteries can block blood flow and cause stroke or transient ischemic attacks
- Skin: Cholesterol deposits can appear as yellowish bumps around the eyes, knuckles, elbows, or knees.
- Eyes: High cholesterol levels can cause corneal arcus, a white or gray ring around the iris of the eye.
- Legs/ Feet: peripheral artery disease, leading to pain in the legs during walking (intermittent claudication) and problems with blood flow to the feet.
59
Critically discuss psychological/holistic implications in caring for a patient with the named genetic disorder (beta thalassemia) (10 marks)
Psychological- Chronic illness and emotional strain: lifelong condition, regular blood transfusions and iron chelation therapy to manage complications such as iron overload.
May struggle with the reality of hospital visits, procedures and uncertainty.
Anxiety and depression^
Stigma and identity issues- may feel different or less capable, low self esteem, body issues self doubt.
Parent due to the nature of it being genetic may feel guilty and carry a heavy burden of managing medical care and ensuring al treatments are complete and attend many appointments
Support for this could include medications such as ssris- ant anxiety medication. Therapy. Genetic counselling.
Physical health – blood tansfusions and iron chelation therapy- physically taxing. Iron over load can lead to liver damage, heart issues or endocrine dysfunction. – fatigue, reduced energy.
Challenges- social interaction, education and employment.- physical limitations of the disorder- financial issues and lack of education.
Palliative care- shortened life expectancy due to complications. Families may need support dealing with advanced care planning, decisions about repayments emotional support related to the impending loss. Holistic care needed.
60
Critically discuss psychological/holistic implications in caring for a patient with the names genetic disorder (familial Hypercholesterolemia) (10 marks)
Psychological impacts-
Anxiety/fear- fear of early cardiovascular events (heart attacks, strokes) due to high cholesterol levels.
Depression- Ongoing treatment and lifestyle changes can lead to frustration and sadness, guilt about passing it on to children.
Stress- Dietary and exercise changes can be stressful, impacting mental health.
Holistic impacts-
Physical health- Lifelong medications (e.g. statins), regular monitoring, potential side effects (muscle pain, fatigue).
Family dynamics- genetic counselling and screenings may cause emotional stress for families, specially if children are affected.
Social isolation- fear of stigma and peer exclusion, especially for children or young adults with FH.
Dietary/ exercise challenges- strict diet, regular exercise requires, leading to potential lifestyle difficulties.
61
Critically discuss common symptoms and signs associated with the names genetic disorder (atrial fibrillation) across the lifespan and relate these to the underlying genetic disorder (10 marks).
Children and adolescents- palpitations, fatigue and exercise intolerance, chest pain or discomfort.
Young adults (20-40)- Palpitations, dizziness or lightheadedness, fatigue.
Middle aged adults (40-60)- palpitations, shortness of breath, fatigue and weakness, chest pain.
Order adults (60+)- Palpitations and tachycardia, syncope, shortness of breath and fatigue r and cognitive impairment.
Common signs across the lifespan- irregular pulse, tachycardia, ecg findings.
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Critically discuss psychological/holistic implications in caring for a patient with the named genetic disorder (atrial fibrillation) (10 marks)
Psychological implications-
Anxiety/ fear- patients often fear stroke or sudden symptoms, racing to chronic worry.
Depression- chronic management of AF and lifestyle restrictions can cause fatigue, loss of quality of life, social isolation.
Cognitive issues- AF may reduce cerebral perfusion, contributing to memory issues especially in older adulthood.
Holistic implications-
Physical impact- Medications such as anticoagulants and treatments such as catheter ablation may have side effects such as fatigue and limit activity.
Social/family impacts- caregiver burden- emotional and physical strain on families.
Lifestyle adjustments- dietary and activity restrictions can affect independence and social life.
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Identify the organs affected by the named disorder (Atrial fibrillation) and explain using physiology how it affects their function (10 marks)
Heart- Ineffective pumping, reduced cardiac output, increased clot risk (stroke), potential heart failure.
Brain- Increased stroke risk due to clot formation, potential transient ischemic attacks
Lungs- pulmonary congestion, shortness of breath, reduced oxygenation due to heart failure.
Kidneys- decreased renal perfusion, cognitive hepatopathy, portal hypertension, potential liver dysfunction.
Peripheral organs and tissues- fatigue, muscle weakness, exercise intolerance due to reduced oxygen supply to tissues.
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21. Explain the change/mutation in the genetic code associated with (MD) (3 marks).
X linked pattern on inheritance
Nonsense mutation
Protein building instructions create stop codon, so the Dystrophin protein doesn't form properly
Dystrophin maintains muscle mass so with improperly functioning dystrophin they experience muscle wasting
