It's not brain surgery...

Over Christmas break, I was helping my grandfather transfer pictures from his camera to his new computer and make new folders for them. Then he wanted to know how to email those pictures to the family. He is 80 something years old and one of the smartest people I know. He remembers everything he reads, can speak many languages, yet computer technology is like another universe for him. He would ask me the same questions over and over. After we were done he told me he was having problems with short term memory. Then I thought... uh oh!

Well it turns out he is in the early stages of Alzheimer's disease. The big mystery is what causes the disease. As it is ranked in the top 10 leading causes of death which makes the search for the cause a major concern. There is a number of factors that are suggested to play a role in it form genetics to lifestyle choices. 

The disease involves the part of the brain dealing with memory, language, and thought. It is a form of dementia where the disease starts out mild and symptoms worsen with time. Although it is hard to tell what causes the disease, scientists have an overall understanding of what is going on to cause the memory loss. With the disease, the normal communication between nerve cells in the brain is impaired. Nerve cells started to die which results in the brain shrinking overtime. The brain of those with Alzheimer’s disease also has an abnormal number of plaques, or clusters of protein fragments that group together, blocking nerve cell communication. Tangles, which are collapsed and twisted proteins inside a cell, are also found to lead to death of nerve cells. (Source)

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It seems as if everyone knows someone who has been affected by Alzheimer's disease these days. While it may seem like rates of this disease are increasing in the population, it may also be due to better diagnosis of the disease. The disease most often begins in individuals over the age of 60 and the rate of risk increases with age. (Source)  

KR

Chromosome 15

Over spring break I ventured to Charleston, SC for the first time with a friend. Just as I had been told a million times, it was absolutely gorgeous. One morning we went to a restaurant that was known for its day long brunch along with its endless mimosas. I’m not sure how we got on the subject but somehow we started talking to our waitress about where she was from. She was a recent grandmother of two children and one was just diagnosed with Angelman syndrome. None of us were familiar with the term so of course I had to look it up when I got back. 

Angelman syndrome is a genetic disorder that was named after Dr. Harry Angelman who was the first to describe several children as having similar characteristics in 1965. The children were all described as having jerky movements, were speechless, suffered from seizures, and had excessive laughter. He originally named the children as “puppet children” after seeing a piece of art titled “A Boy with a Puppet” that reminded him of the children. The Angelman name was attributed to the symptoms in the 80s after it was compared to Prader-Willi syndrome. A problem in the maternally derived chromosome 15 results in Angelman syndrome while a problem in the paternally derived chromosome 15 results in the similar Prader-Willi syndrome. 

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Genetic epidemiology has grown since the human genome project. It is now a little easier to determine the number of individuals who have genetic disorders that may have been improperly diagnosed in the past. In North America, most known Angelman syndrome cases are of those of Caucasian descent but the exact incidence rate is not known. There is an estimated prevalence of children and young adults with Angelman syndrome between 1/10,000 and 1/20,000. The unknown may be due to the fact that children are not diagnosed until development issues appear or misdiagnosed with autism or other syndromes. (Source) 

KR 

"Dallas Buyers Club"

On Sunday, Matthew McConaughey walked away with an Oscar for “Best Actor in a Motion Picture” for his role in Dallas Buyers Club. 

For anyone who has not seen this movie, it is based on a “true story” of Ron Woodroof’s  diagnosis of AIDS in 1986 and the events following. In the film he is a "homophobic" Texan who contracts HIV/AIDS from unprotected sex with a female drug user. His friends shun him, because at the time HIV/AIDS was largely associated with the gay community. His doctors give him 30 days to live, but he lives for 6 years after finding a drug in Mexico. He starts smuggling in non-FDA-approved drugs from Mexico and other countries to treat others. The Dallas buyers club was a club you could pay money to join to get these drugs. 

Whether you like or dislike Matthew McConaughey or the film in general, it does a good job of showing the Hollywood version of stigma that was attributed to HIV/AIDS in the 80s. Even though the movie may misrepresent the LGBT community during the time, the film still portrays issues that HIV/AIDS patients may have suffered. 

HIV is most commonly transmitted through sex or sharing of needles in drug use. It can also be transmitted from mother to child or any contact with infected blood or certain fluids. So why was there such a stigma with HIV/AIDS in the United States to begin with? Many of the first cases in the US were found in men who contracted it from having sex with other men. This started the belief that this was the only way it could be spread. In the early 80s it was even termed GRID or gay related immune deficiency.

I am a loyal fan of Grey’s Anatomy despite the fact that not all the medical references are correct. But there was an episode that touched on the topic of HIV/AIDS in the 80s. 

In the United States today, the records are set straight for how HIV/AIDS is obtained but too many believe it could never happen to them. Some individuals can have and spread the virus for years without knowing they have it due to its incubation period or ability to notice signs of a decreased immune system. Due to advances in medical technology there are antiviral drugs that one can take to prolong the HIV period and prevent AIDS. There are even some cases of individuals being "cured" or HIV free for several years without medication. These cases were only in adults and one infant who had early detection and treatment. (Source)


KR