Reference no: EM131412888

Assignment: My subject is X-linked hypophosphatemia rickets, dominant

What is a fact sheet?

A fact sheet provides meaningful information about a topic in a format that is extremely brief and easy to read. Experts use them to summarize the "state of the art" about the topic. Fact sheets are used to provide an overview, to provide recommendations and advice, and sometimes to convince the reader to change their behavior. The focus is on providing what is essential and presenting the information in a way that is visually appealing and accessible.

Fact Sheet Format for This Assignment

- DO NOT INCLUDE pictures or images in the fact sheet.

- The fact sheet should be between 1 and 1.5 -spaced typed pages long (preferably 1 page), not including the reference list. PAGE LIMIT for fact sheet - 2-3 pages (where page 2 or page 3 should list the bibliography)).

- Use Arial 11 point font.

- The fact sheet must be based primarily on at least 2-3 recently (within last 5 years, or within10 years only if you cannot find material in the last 5 years) published review articles of disease (from public health or medical journals). You may augment this information with data from websites (especially OMIM) or other publications, but published reviews SHOULD form the basis of your research. Textbooks can be used to gain a basic understanding of your chosen disease or condition.

- All references (links to databases and articles) used to create your fact sheet should be cited in the text and referenced in a bibliography list on at the end (i.e. LAST PAGE). The key review article used should be starred.

Steps in Preparing your Fact Sheet

1. Disease. The focus is a genetic disease or condition that affects humans. Look at the BB Learn Page to see the disease you have been assigned. If you have any concerns regarding this please bring it to my attention immediately.

2. LOOK AT THE literature. Use "PubMed," the bibliographic database for the fields of medicine and public health. This will involve clearly deciding your question, creating a search strategy, and identifying "key words" and "subject headings." Note: it is extremely difficult to thoroughly conduct a PubMed search without using the MeSH database. HINTS: Focus on Reviews. Identify all published reviews on your topic during the past 5-10 years. Select the best 3 reviews.

3. Limit the scope of the topic. After researching your topic to get a sense of its scope, you may decide to limit your topic by focusing on a specific group according to race, age, gender, or geographic location. If there are too many review articles on your topic you may need to limit the scope of your fact sheet further. If there are not enough reviews, please check in with the Professor.

4. Genetic variations that cause that disease. Provide at least one mutation/deletion/duplication in the gene that is causative of the disease. You may search OMIM, dbSNP, dbVAR, HGMD and other database of genome variations that are associated with specific diseases to find an example of the kinds of mutations are associated with the disease. Often there will be several minor variations in the types of mutations that can cause the disease. Please pick any ONE type for your research project.

5. Keep the audience in mind. Fact sheets are written towards a specific audience. For this assignment, you should target your fact sheet to a fellow UH student. Do not make heavy use of Medical jargon, rather explain concepts simply in a few sentences.

Content of Fact Sheet

The following questions should be answered in your assignment. For some topics, these will not be appropriate, but if that is the case, be sure to clearly state that there is a gap in the literature-otherwise, we will think that you have missed something. This list is written in the order information usually appears in a fact sheet. If you decide to deviate from this, you should have an exceptionally clear and compelling reason for doing so.

a) What is the name of the disease or condition? How is it defined and diagnosed?

b) Why is it a problem? Describe its symptoms, morbidity, and mortality.

c) What are the major risk factors of the disease? Is there a known cause of the disease? If the cause is not completely understood, what are the leading candidates for causes?

d) What populations are at risk for this disease or condition? Does the disease vary by subgroups? How? Populations refer to groups that can be described according to their varying characteristics, such as age, sex, education, income, or geographic location.

e) What is the incidence of the disease? If there are data on prevalence, include these as well.

f) How is the disease treated?

g) How is the disease prevented?

Here is some work

cited you can use it:

1- Ruppe, Mary D. "X-Linked Hypophosphatemia." GeneReviews® [Internet]. U.S. National Library of Medicine, 16 Oct. 2014. Web. 17 Feb. 2017.

https://www.ncbi.nlm.nih.gov/books/NBK83985/

2- https://omim.org/entry/307800#title

3- https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1380229/