Emily+M.

=Post #1: Genetics= =The Genetics Behind Albinism= media type="youtube" key="cHRM2S_fBOk" width="560" height="315" Albinism, leaving people without pigment in their hair, skin and eyes, is a rare, and unique condition. Albinism occurs when certain genes in one's DNA malfunction, limiting or completely excluding the production of the chemical melanin. Melanin is responsible for making eyes colorful, skin various shades and hair a variety of unique and brilliant colors. When someone is albino, their skin would most likely be very pale and sometimes uneven, as well as they would have white or blond hair and pinkish or blue tinted eyes.

Although albinism is most known for its side effects of taking the color out of organisms, there are also other ones as well. There are multiple types, such as:

Ocular Albinism
This type only effects the organisms eyes, leaving them primarily pink or blue. Also, this being an x-linked trait, mostly boys have this type.

Oculocutaneous Albinism
This type of albinism is the most commonly known one, the type that effects the skin color, eye color and hair color of the individual.

Hermansky Pudlak Syndrome
This form of albinism causes bleeding disorders, bruising, lung problems and intestinal disorders.

Chediak - Higashi Syndrome
This type causes abnormality in certain types of white blood cells, causing a low resistance to infections.

Griscelli Sydrome
This form causes immunodeficiency and neurological problems.

Albinism is an inherited condition, and can be passed on from generation to generation as a recessive trait.

The production of melanocytes, the cells responsible for the production of melanin are found in the gene TYRP1. This gene holds the instructions to make tyrosinase, an enzyme found in melanocytes. With a lack of tyrosinase, the cells cannot be produced, meaning that the melanin needed for pigmentation cannot be produced.



Further Reading:
http://www.visionfortomorrow.org/genetics-of-albinism/ http://hmg.oxfordjournals.org/content/3/suppl_1/1469.short http://journals.plos.org/plosbiology/article?id=10.1371/journal.pbio.0060248 https://news.brown.edu/articles/2014/12/albinism

References: @http://www.gbhealthwatch.com/Trait-Eye-Color.php @http://www.visionfortomorrow.org/genetics-of-albinism/ http://www.healthline.com/health/albinism#Causes

=Post #2 : Nervous System= =Phantom Limb Syndrome= Phantom Limb Syndrome occurs when one feels sensation, often in forms of pain, in a limb that is no longer there. This tends to happen to amputees, as well as people who've had organs removed, such as their appendix or even at times teeth that have been pulled. Approximately 5 to 10% of amputees experience this phenomenon and although this side effect usually wears off with time, that isn't always the case.

This occurs because the nerve endings where the amputation was done send signals to the brain that make it feel like the limb is still there. The brain's memory of pain is usually what is felt, not pain itself. This happens due to the connection of nerves. The nerves that are present in your hand for example connect to your arm, which eventually follows a path up your spinal cord and into your brain. When a limb is amputated, the nerves leftover are so use to having that connection, they essentially "remap" the part where there is no longer input to be received. This leaves the patient feeling like the limb is still present, and can cause slight sensation or even intense pain. Scientists originally believed that the nerve endings at which the limb had been amputated were inflamed, and caused a sensation of pain. They attempted to fix the problem by cutting off the end of the stump, in hopes of removing the inflamed nerve endings. This was unsuccessful, and the patients found the sensation to be not only where it had been previous to the operation, but also in the part that had just been amputated. It wasn't until the 1990's that the discovery was made that this method didn't work.

Some treatment for Phantom Limb includes things like nerve blockers, injection of local anesthetics and/or steroids, mirror therapy, TENS (trans-cutaneous electrical nerve stimulation) of the stump area, physical therapy, and even medication treatment such as anti-depressants, pain relievers and sodium channel blockers, which from what we learned in class seems to be medication that would potentially stop the flow of sodium into the neurons and prevent the firing of each neuron in that area. The severity of the treatment often depends on the severity of the pain the individual experiences.

Further Readings:media type="youtube" key="hrqi1B9Xbt0" width="420" height="315" align="right" I thought this was interesting! http://www.neurosmedical.com/clinicalresearch.html?utm_source=Bing&utm_medium=cpc&utm_campaign=phantom_pain http://www.huffingtonpost.com/2013/04/13/phantom-limb-syndrome-non-amputees_n_3072201.html http://www.popsci.com/science/article/2013-04/scientist-give-phantom-limb-syndrome-people-all-their-limbs http://highexistence.com/how-to-temporarily-experience-a-phantom-limb/

References: http://www.webmd.com/pain-management/guide/phantom-limb-pain http://www.news-medical.net/health/What-is-a-Phantom-Limb.aspx