Archive | October, 2011

Webliography: Huntington’s Disease

22 Oct

            “Huntington’s disease (HD) results from genetically programmed degeneration of brain cells, called neurons, in certain areas of the brain. This degeneration causes uncontrolled movements, loss of intellectual faculties, and emotional disturbance” (NINDS, 2010). Huntington’s disease is an autosomal dominant disease, meaning it is a genetic disease, passed from carrier parent. Since this is a dominant disease, there is a 50-50 chance a child will be passed the mutated gene if one parent is a carrier. Research has found that a mutated gene is responsible for causing HD. The National Human Genome Research Institute (2011) explains that “a single abnormal gene produces HD. In 1993, scientists finally isolated the HD gene on chromosome 4. The gene codes for production of a protein called ‘huntingtin,’ whose function is still unknown. But the defective version of the gene has excessive repeats of a three-base sequence, ‘CAG.’ In the normal huntingtin gene, this sequence is repeated between 11 and 29 times. In the mutant gene, the repeat occurs over and over again, from 40 times to more than 80.” Overproduction of this protein is what is thought to cause the symptoms of HD.

            Signs and symptoms originate and progress differently for all individuals with HD. NINDS (2010) describes early symptoms of HD as “mood swings, depression, irritability or trouble driving, learning new things, remembering a fact, or making a decision. As the disease progresses, concentration on intellectual tasks becomes increasingly difficult and the patient may have difficulty feeding himself or herself and swallowing.” This is a progressive and irreversible disease. There are only a few medications for patients that help provide relief for some of the symptoms, mainly the use of tetrabenazine to treat chorea. These are only so effect and do not stop the progression. There currently is no cure for Huntington’s disease. Research is being conducted worldwide to strive for an answer for families suffering from this disease.

            I chose to write my webliography over Huntington’s disease because this disease is present within my family. Since this is a genetic disease, it has a long history in my family. My grandmother on my mother’s side died when my mom was in her late teens. My grandfather was not a carrier of the disease, so the chances of their children developing the disease were 50/50. My mother, the eldest, was one of four children. She and her younger sister have yet to show signs or symptoms of this disease, but neither has chosen to have genetic testing done. My mom’s youngest sister and only brother began to develop signs of HD in their 20’s. My aunt passed away last summer, after battling HD for years. My uncle’s health is slowly declining without any sort of cure. Two out of the four children developed the disease (50-50). My family is involved with charity work and raising money for Huntington’s disease. Every year, family members play in the Hope for Huntington’s Golf Classic in Illinois, which is organized by the HDSA to raise money for HD research.

            While choosing websites for my webliography I looked at many different factors. Those including, credibility of the source from the URL and domain name, credentials of the author(s), copyright, and published/updated date. Since HD research is constantly changing and evolving, a resource with all of the latest research and news is ideal. I also looked to see if there are sources listed and if it’s listed in a reliable directory.

MedlinePlus
Huntington’s Disease
http://vsearch.nlm.nih.gov/vivisimo/cgi-bin/query-meta?v%3Aproject=medlineplus&query=huntington%27s+disease

This directory is a very good resource for HD research. It is nicely organized with no distracting advertisements. There is a brief description describing HD and I noticed this entire website can be translated to Spanish. The links provided are good websites and articles related to HD. A sidebar option can control what exact aspects of HD to find by keyword.

WebMD
Huntington’s Disease Directory
http://www.webmd.com/a-to-z-guides/huntingtons-disease-directory

This site provides a basic description of Huntington’s disease. There are links towards research and genetic testing for HD, as well as links for the latest news on HD. Video links are also provided to explain genetics.

Huntington’s Disease Society ofAmerica
http://www.hdsa.org/

This website is a reputable source of legitimate HD information. It is organized and easy to browse through. It also provides links to the current research efforts to fight HD. It provides links to families on how to live with HD, as well as personal stories, and what you can do to help.

Huntington’s Disease: Lighthouse Family
Huntington’s Disease Research Reports
http://www.hdlf.org/research

This is a great resource for all the research that has been done on HD. It is very well organized, and has many links to past research. All of the research is organized by most recent and explains the basis of the research in the title. Research ranges from April 2011 all the way back to March of 2002 and was posted by a credible source.

ColumbiaUniversityMedicalCenter
FAQ’s About HD
http://www.hdny.org/FAQ.html

This site is great for the basic breakdown of explaining what HD is and what is currently being done in researching HD. It also provides links off to the side about research, clinical trials, treatment, genetic testing, etc.

American Speech-Language-Hearing Association
Huntington’s Disease
http://www.ninds.nih.gov/disorders/huntington/huntington.htm

This is a great resource for basic explanation of HD and the disease process. It also provides links to HD publications, organization, news, and research literature. It is from a reputable source, is easy to read, and it up-to-date information.

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Brief Overview of Health Care Informatics

7 Oct

What is Health Care Informatics?

Health care informatics is a combination of nusing science, information science, and computer science. According to McGonigle & Mastrian (2008), “nursing informatics implementation requires us to view nursing informatics from the perspective of our current healthcare delivery system and specific, individual organizational needs, while proactively anticipating and creating the future applications in both the healthcare system and our profession” (pp 1). In simplier terms, it combines all of the scientific research done on nursing with newer technology and research. In all, it’s goal is to provide better care for patients.

Electronic Health Record

Who owns the Electronic Health Record (EHR)? Is it the patient? The health system? The computer software company?

I think that the EHR is technnically owned by a health care system, such as, St. John’s Mercy. The health care system employees are the ones that have compiled the patient’s health care information and history into a single, user-friendly, site. The hospital buys the right to use software for the EHR, so it should not be considered the software company’s property. Yes, the patients do and should have a right to view their chart, but the copyright on it should not belong to them because they didn’t write it. When an extra copy is printed off for the patient to have to keep for their own records, it still remains in EPIC. Therefore, the health system owns the EHR, it should not be considered the patients private property.

McGonigle, D., & Mastrian, K. (2008). Nursing Informatics: A foundation of knowledge. Sudbury, MA: Jones & Bartlett.