Applied Pathobiology Assessment 2 – case study

pplied Pathobiology Assessment 2 – case study

This assessment covers 30% of the marks for this module.

Instructions

  1. We provide four case studies, each with questions. You should choose ONE case study and answer the questions on that.
  2. Use Arial font, size 12 with 1.5 line spacing for all your work.
  3. The case study has a word limit of 800 words +/- 10% excluding any references and in-text citations. This means 800 words in total for all the questions for the case study you choose.
  4. Please label your answers to the questions as A, B, C etc (depending on the number of questions in the case study) as each question will have a percentage mark. 
  5. Submission of your work – there will be four submission links (one for each case study) so submit your work to the ONE submission link for the case you have chosen.
  6. The deadline for submission is Wednesday 10th January 2024 at 1pm. Normal extra days allowed for submission for students with RAF and/or MC apply
  7. Students with RAF and/or MC extensions please submit to the same links (your submission will not be late if you submit within the extra time allowed in your RAF/MC).

 

Case 1

Vivienne A. (mother) and Isabel A. (daughter) go to the GP for prolonged fatigue in the last four months. Vivienne is a retired 74-year-old teacher, who reports fatigue, tingling and numbness in her hands and feet, difficulty walking. At physical examination Vivienne shows pale skin and mucous membranes, decreased vibration sense in the extremities, ataxia and unsteady gait. Vivienne does not smoke, and the medical history is negative for cardiovascular diseases. Isabel is a 30-year-old administration assistant who has had her second child in the last year. She reports difficulty in performing daily tasks, and her shortness of breath has worsened during physical exertion. Her medical history is unremarkable, with no known chronic illnesses. At physical examination Isabel shows pallor of the skin and mucous membranes, koilonychia (spoon-shaped nails), tachycardia, and smooth and beefy red tongue.

The Full Blood count for both family members report the following:

 Reference Range (female)Vivienne A.Isabel A.
Hb (g/L)118-1487889.5
RBC count (x1012/L)3.9-5.02.63.8
Haematocrit/PCV (%)33-4728.626.2
MCV (fL)77-9811069
MCH (pg)26-333023.5
RDW (%)10.3-15.316.719.1
WBC count (x109/L)4.0-10.03.36.7
Blasts/Atypical cells (x109/L)0.01Not detectedNot detected
PLT count (x109/L)150-400110245

The GP concludes that given the physical examination and the FBC results, Vivienne is affected by Vitamin B12 deficiency anaemia and Isabelle is affected by Iron deficiency anaemia, prescribing Vitamin B12 supplements for Vivienne and Iron tablets for Isabel.

Question A (50%)

Compare and contrast the pathogenesis (i.e. mechanisms of disease development) of the two types of anaemia highlighting common and divergent features.

Question B (20%)

Explain why some FBC tests have a different result in the two cases (i.e. below reference range in one, normal or above reference range in the other).

Question C (30%)

Suggest at least two further diagnostic tests that would help the GP confirm the diagnosis for each case, reporting the possible results you expect for each case.

Case 2

A 52 year old London financial analyst works under highly stressful conditions. She has put on weight since the pandemic which has coincided with exercising less frequently. She has also been drinking alcohol considerably over the recommended limits of 14 Units/week. More recently she has noticed some occasional abdominal pain and generally feeling fatigued. Upon visiting her GP, her blood pressure was slightly elevated at 142/90 mmHg and her BMI was 27.4 She stated that she was drinking over 30 Units per week on a regular basis. She was also an occasional smoker. Blood was taken for biochemical analysis.

.

Test                                                                         Reference range

Total bilirubin                               57                          3 – 21 mol/L

Conjugated bilirubin                     41                          3 – 21 mol/L

GGT                                           346                         <40 mol/L

ALP                                            125                         33 – 98 U/L

AST                                            76                          10 – 50 U/L   

ALT                                            67                          10 – 50 U/L

Albumin                                      37                          35 – 50 g/L   

Total Protein                               64                          62 – 82 g/L   

EtG (ethyl glucuronide)                650                         <500 ng/mL

Urine dipstick analysis was positive for bilirubin

A). The GP reported she has fatty liver with some liver inflammation due to alcohol and/or her dietary intake. Supported by the results explain the possible patho-physiological mechanisms leading to fatty liver & hepatitis (50%)

B). Following the blood results a liver scan was taken which showed a fibrosis score of F2 (normal <F1). Additional fibrosis score, Enhanced Liver Fibrosis (ELF) was 8.8 (<7.7 none to mild). Explain the implications of these readings and the pathological mechanisms linked to fibrosis (25%

C). If she continued to drink excessively, leading to liver cirrhosis what other signs and symptoms would become apparent and why? (25%)

Case 3

Background

Mrs. Aisha Khan, a 40-year-old woman, presents to the clinic with a family history of premature coronary artery disease. Her father suffered a heart attack at the age of 45y, and her paternal grandfather died of a heart attack at 42y. Mrs. Khan has a BMI of 28 kg/m2 and is a non-smoker. She leads an active lifestyle but admits to a diet high in saturated fats. Her blood pressure is within the normal range. Blood tests reveal normal renal and liver function and blood glucose was unremarkable. The lipid profile results demonstrate:

Lipid analyte Mrs SmithReference interval
Total cholesterol (mmol/L) 9.313.50 to 5.20
LDL cholesterol (mmol/L) 7.77<2.0
HDL cholesterol (mmol/L) 1.030.90 to 2.20
Triglycerides (mmol/L) 1.690.80 to 2.00

Physical examination indicates ocular and tendonous xanthelasma. Given her family history and elevated cholesterol levels, the GP suspects a certain lipid condition. Considering her high cardiovascular risk, the GP recommends lifestyle modifications and prescribes medication for the patient. At three months follow up the total cholesterol and LDL cholesterol have reduced slightly to 8.4 and 5.9 mmol/L respectively. The GP is concerned that these values remain high and changes the patient to a new form of drug for this condition.

A. What is the likely diagnosis of the disease and what are the clinical signs of xanthelasma? (20%)

B. How is this condition diagnosed?  (20%)

C. Explain the significance of elevated LDL cholesterol levels in the pathophysiology of atherosclerosis. (30%)

D. Outline the different pharmacological interventions used in the management of the condition and provide detail of their mechanism of action. (30%)

Case 4

A woman, 83 years of age, sees the GP following increasing concern by family members about her noticeable decline in cognition, associated with progressive loss in memory. Her family has noticed that she increasingly has difficulties recognising familiar faces, has occasional incontinence and sometimes struggles with eating.  Based on her age and symptoms, the GP decides to specifically requests an APOE test, which when returned from the lab shows that the woman has one copy of the APOEε4 allele.

  1. Based on the clinical signs that the women shows, and the outcome of the ApoE test, provide a suspected provisional diagnosis and provide a concise overview of the main underlying molecular mechanisms, including main molecular pathways and downstream mechanisms, for this type of disease. (50%)
  • Explain the relevance of the APOE test and why this would be requested in the suspected disease. Explain key functional roles of APOE in the brain and therefore its relation to this specific dementia.  (25%)
  • Explain which histological analysis techniques can be used to characterise the suspected type of dementia; discuss histological stains and specific histological characteristics that would be observed. Explain how the characteristic histopathological features may be associated with cognitive status in this type of dementia. (25%)
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