.THIS IS WORK ON BIOMEDICAL CASE STUDY .lam giving my case study with criteria (order instruction) and please make sure you cover the criteria and you can use the resource as many you need

CASE STUDY

Case study 1: A 61 year old man presented to his doctor complaining of an altered bowel habit over the last four-five months, in that he suffered from constipation and diarrhoea, and recently had noted significant blood in his stools. Upon examination, he was found to be pale and the doctor thought he could feel a mass in his rectum. A blood test confirmed that he was anaemic. He was referred for urgent surgical examination and the surgeon confirmed the presence of a rectal lesion approximately 7 cm from the anal margin. No other lesions were found in the sigmoid colon or the rectum. A barium enema was performed to examine the entire length of the large bowel for other lesions. None were apparent. The tumour and adjacent bowel were removed by surgery.

Histopathological analysis confirmed the diagnosis of an adenocarcinoma of the rectum. IHC analysis confirmed the loss of expression of the hMLH1 protein. Microsatellite analysis of tumour DNA confirmed the presence of high microsatellite instability. Mutation analysis confirmed the presence of a frameshift mutation in exon 16 of the hMLH1 gene.

Questions

1. What is the diagnosis?
2. What form of DNA repair is deficient in these patients?
3. Write brief notes on chromosomal instability and microsatellite instability.
4. Define locus and allelic heterogeneity. Why is it relevant in this disease?

CRITERIA FOR THE CASY STUDY
Harvard Referencing.
CASY STUDY FORMAT
 Introduction
 Molecular Basis of Disease
 Techniques/Procedures
 Disscussion
 Introduction – provide a brief introduction to the topic area and a background to the disease which you are discussing. You may outline in this section what the patient is suffering from to support your introduction.
 Molecular Basis of disease – in this section you will go into more depth about the disease – looking at the molecular events that have occurred which have triggered the development of the disease. Outline perhaps the pathways that are disrupted and how this affects the cells or the tissue function. In writing about these you should address several of the questions linked in to your case study
Tests and results – in this section you will discuss the tests performed and the results. Outline the role of these techniques, what the results show and how this supports a diagnosis. You will need to link the tests into the molecular basis of the disease – for example – if IHC is performed what is being evaluated and why does this help to demonstrate which pathway is disrupted in the cell?
 Techniques/Procedures – Discuss the techniques/procedures performed. Link these into the molecular basis of the disease e.g what is the technique demonstrating, how this relates to what has ‘gone wrong’ in the patient…Sensitivity and specificity of the test etc…. Again linking int the questions provided by the tutor.
 Discussion – in this you can conclude and address any other significant areas or answer any of the questions you have not addressed.
Discussion – In this section you will summarise your report and discuss the role of the laboratory and the techniques performed in supporting patient diagnosis and providing information in prognosis and treatment. You may need to highlight any ethical issues involved in performing these tests if appropriate to your case study.

.THIS IS WORK ON BIOMEDICAL CASE STUDY .lam giving my case study with criteria (order instruction) and please make sure you cover the criteria and you can use the resource as many you need

CASE STUDY

Case study 1: A 61 year old man presented to his doctor complaining of an altered bowel habit over the last four-five months, in that he suffered from constipation and diarrhoea, and recently had noted significant blood in his stools. Upon examination, he was found to be pale and the doctor thought he could feel a mass in his rectum. A blood test confirmed that he was anaemic. He was referred for urgent surgical examination and the surgeon confirmed the presence of a rectal lesion approximately 7 cm from the anal margin. No other lesions were found in the sigmoid colon or the rectum. A barium enema was performed to examine the entire length of the large bowel for other lesions. None were apparent. The tumour and adjacent bowel were removed by surgery.

Histopathological analysis confirmed the diagnosis of an adenocarcinoma of the rectum. IHC analysis confirmed the loss of expression of the hMLH1 protein. Microsatellite analysis of tumour DNA confirmed the presence of high microsatellite instability. Mutation analysis confirmed the presence of a frameshift mutation in exon 16 of the hMLH1 gene.

Questions

1. What is the diagnosis?
2. What form of DNA repair is deficient in these patients?
3. Write brief notes on chromosomal instability and microsatellite instability.
4. Define locus and allelic heterogeneity. Why is it relevant in this disease?

CRITERIA FOR THE CASY STUDY
Harvard Referencing.
CASY STUDY FORMAT
 Introduction
 Molecular Basis of Disease
 Techniques/Procedures
 Disscussion
 Introduction – provide a brief introduction to the topic area and a background to the disease which you are discussing. You may outline in this section what the patient is suffering from to support your introduction.
 Molecular Basis of disease – in this section you will go into more depth about the disease – looking at the molecular events that have occurred which have triggered the development of the disease. Outline perhaps the pathways that are disrupted and how this affects the cells or the tissue function. In writing about these you should address several of the questions linked in to your case study
Tests and results – in this section you will discuss the tests performed and the results. Outline the role of these techniques, what the results show and how this supports a diagnosis. You will need to link the tests into the molecular basis of the disease – for example – if IHC is performed what is being evaluated and why does this help to demonstrate which pathway is disrupted in the cell?
 Techniques/Procedures – Discuss the techniques/procedures performed. Link these into the molecular basis of the disease e.g what is the technique demonstrating, how this relates to what has ‘gone wrong’ in the patient…Sensitivity and specificity of the test etc…. Again linking int the questions provided by the tutor.
 Discussion – in this you can conclude and address any other significant areas or answer any of the questions you have not addressed.
Discussion – In this section you will summarise your report and discuss the role of the laboratory and the techniques performed in supporting patient diagnosis and providing information in prognosis and treatment. You may need to highlight any ethical issues involved in performing these tests if appropriate to your case study.