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Assignment Briefs 11-25-2024

BC6051 Systems Pathology

Coursework title: Short scientific communication on the analysis of phenylketonuria (PKU).

Submission method:  Uploaded Word document to Weblearn via Assignments module link.

Word count: 1500 words (not including abstract and references).

This coursework is worth 60% of the overall module mark.

Guidelines for coursework assessment.

In teaching week 2 you will be performing a laboratory-based analysis of phenylketonuria (PKU) in two patients as part of the syllabus for the BC6051 Systems Pathology module.  For the coursework assessment, you are required to write a practical report in the form of a short scientific communication with a maximum word count of 1500 words.  Your practical report will contain the following sections:

1. Abstract (no more than 200 words)

This is the front window for your report. It enables the reader to make an informed decision about whether they want to read the whole report. The length is usually a paragraph or two and always less than a page. One way to write an abstract is ask and then address a number of questions concerning your experiments such as:

What is the purpose of the work?

What methods did you use for your research?

What were the main findings and conclusions reached as a result of your research?

Did your work lead you to make any recommendations for future actions?

No references or figures should be included in the abstract

2.  Introduction

This section should provide relevant background information on the project, with appropriate use of references to published literature.  In other words, it should take the form of a short literature review.  However, as the word count limit for this report is only 1500 words, you should keep this section as concise as possible whilst covering the relevant information that readers will need to know in order to make sense of your experiments.

At the end of the introduction, you should state the aim of your project.

3. Materials and Methods

This section described the materials (e.g. chemicals and equipment) and methods you used in the laboratory to perform your experiments.  As you will have already completed your experiments by the time you come to write this, it should be written in the past tense and also in the third person.

(for example, “0.5ml of Phenylalanine Hydroxylase was added to sample tubes 1b and 2b and incubated for 15mins in a water bath set to 37C”, not:  “ I added 0.5ml Phenylalanine Hydroxylase... or  “0.5ml  Phenylalanine Hydroxylase is added to....”)

The materials section should never be written out like a shopping list, and do not use bullet points or numbers when describing the methods (this would then be called a protocol, not a method description). The methods should be written out fully in normal prose structure (i.e. sentences and paragraphs) in sufficient detail for another researcher to repeat your experiment based solely on the information provided within this section.  Remember to include all volumes, concentrations and incubation times used in your experiments.

4. Results

In this section, you describe your results with inclusion of figures and accompanying text.  Remember to include figure numbers and descriptive legends for all your figures, and refer to all figures in the text.

5. Discussion

The discussion is exactly what it claims to be. Normally most students falter at this final hurdle and lose most marks since a significant amount of marks is proportioned to this section. The discussion is normally written as one piece of fluent text, but can be divided into paragraphs. The discussion should include:

  • a point by point summary of the results obtained.
  • discussion of significance of results
  • why the experiments may not have worked
  • how the experiments could be modified or improved.

Most importantly the results of the experiments should be discussed in terms of the original aims or hypothesis of the experiments. Finally the results should be discussed in terms of previously published work. Remember to use past tense and reference all papers and work which you refer to.

6. References           

References should be provided at the end in a numbered alphabetical list according to the Harvard referencing style.  In addition, all in-text references should be provided within closed brackets as author surname et al (if more than two authors, followed by the publication date (e.g. (Kennedy et al, 2008); if only one author, then just (Kennedy, 2008); if two authors, then (Kennedy and Smith, 2008).

Sample Answer

BC6051 Systems Pathology

Abstract

Phenylketonuria (PKU) is an autosomal recessive metabolic disorder caused by mutations in the PAH gene, resulting in deficient activity of the enzyme phenylalanine hydroxylase. This study aimed to analyse the phenylalanine levels in plasma samples from two patients suspected of having PKU using spectrophotometric methods. Plasma samples were treated with specific reagents to measure phenylalanine concentrations and determine phenylalanine hydroxylase activity. Results revealed significantly elevated phenylalanine levels in Patient A, confirming a PKU diagnosis, while Patient B presented normal levels. This study highlights the importance of early and accurate diagnosis of PKU for effective management and outlines potential methodological improvements for future investigations.


Introduction

Phenylketonuria (PKU) is a genetic disorder characterised by the inability to metabolise phenylalanine, an essential amino acid, due to phenylalanine hydroxylase (PAH) deficiency. This enzyme catalyses the hydroxylation of phenylalanine to tyrosine, a precursor for neurotransmitters and melanin. Elevated phenylalanine levels in PKU can lead to severe neurological impairments....

Continued...

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