And I thought I had a lot of mucus...

Ever since taking biochemistry a couple semesters ago I had a weird interest in cystic fibrosis. We had this topic on a test and I decided to research it and found it quite interesting. My professor had provided videos of people that had this disorder and their daily lives. 

Cystic fibrosis is a genetic disorder that mostly affects the lungs and sometimes the pancreas, liver, kidneys, and intestines. People that have CF usually have a difficult time breathing and cough up mucus. This is because they usually get frequent lung infections. CF is an autosomal recessive disorder. It is caused by the presence of a mutation in both copies of the gene, cystic fibrosis transmembrane conductance regulator. This gene is otherwise known as CFTR. CTFR is involved with producing sweat, digestive fluids, and mucus. When this gene is not working properly, the secretions that are usually thin become extremely thick. This is what causes lung and sinus infections.

To test for CF a sweat test and genetic test is done. There is currently no known cure for this disorder. The infections that are obtained are treated with antibiotics. These antibiotics are usually inhaled or taken by mouth. If lung function continues to worsen, lung transplant is an option. Most people with this disorder take pancreatic enzyme replacement and fat soluble vitamin supplements. Some people even use chest physiotherapy. This is when they strap a special vest around their chest that vibrates and shakes to break up the mucus in their lungs. 

High-frequency chest wall oscillation uses an inflatable vest that is attached to a machine. The machine powers the vest to perform chest physical therapy by vibrating at really high frequencies. Every five minutes that the machine is running it is turned off so that the person can cough up any mucus that was loosened up.  In the machine there is an air pulse generator that attaches to the generator by hoses. The generator send air through the hose causing the vest to inflate and deflate at a fast pace. It does this about 20 times per second and it creates pressure to the chest that is similar to clapping. This motions doesn’t only loosen mucus, but works it in to major airways so that it is easier to cough up. The sessions with this vest usually last about 20 to 30 minutes. 

The average life expectancy is 42 to 50 years and lung problems are responsible for 80% of the deaths. There are more than 30,000 people in the US and the symptoms of this disorder varies from person to person. This truly amazes me because that means that 30,000 people are all living with this disorder and most likely have different symptoms. Below I have attached a photo of the vest that they use to help break up the mucus. This is what I found so interesting about this disorder. It’s incredible that someone found a way to loosen mucus in a way that the body isn’t able to do.

 https://www.cff.org/What-is-CF/About-Cystic-Fibrosis/

 https://www.cff.org/Life-With-CF/Treatments-and-Therapies/Airway-Clearance/High-frequency-Chest-Wall-Oscillation/

Creatures of the Night

As little as everyone may know… I have a huge obsession with vampires. I have traveled to New Orleans so that I could go on a vampire tour, I have gone to museums, and I watch many and many of vampire shows. I even have a picture of one hanging from my wall in my apartment and have been one the past three Halloweens. I am a super nerd when it comes to them. Therefore, I decided to choose the topic of Xeroderma pigmentosum for this weeks blog. 
 

Xeroderma pigmentosum, also known as vampire syndrome, is an inherited condition. This condition is characterized by extreme sensitivity to the ultraviolet rays from sunlight just like vampires are known to be. When in the sun the areas that are receiving sunlight and the eyes are affected. In extreme conditions the nervous system is also affected.

The symptoms of this condition usually appear during early childhood and infancy. It is usually diagnosed after a child gets a severe sunburn after only being in the sun for a couple minutes. The sunburn leads to blistering that will last for weeks at a time. Some children will tan very easily and over time develop freckles on their skin in the areas that are exposed to the sun. The name itself comes from the sunlight causing dry skin which is xeroderma and the skin changing color which is pigmentation.  

It is easy to tell that people with this condition will have and extremely high risk of developing skin cancer. In most cases if the correct sun protection isn’t used the children will develop skin cancer by the age of ten. The skin cancer that is obtained is usually on sensitive areas such as the face, lips, eyelids, scalp, and tip of the tongue. Not only are these people at the risk of getting skin cancer, they also develop the risk of brain tumors and lung cancer. It is essential that the people with this condition wear eye protection because the sun will cause their eyes to get cloudy, their eyelids to thin, and their eye lashes to fall out. It is also normal for these people to develop eye abnormalities effecting their vision.

This condition is caused be mutations in nine different genes. Eight of which make up the nucleotide excision repair pathway which controls the repairs of UV induced DNA damage. The ninth gene is what bypasses unrepaired damage. XP is an autosomal recessive disorder meaning that it is inherited when two copies of a non-working genes for the same trait is present. If a person only has one non-working gene and one working gene they are a carrier of the condition but do not express the symptoms. Parents that are blood relatives have an increased chance to carry the same non-working genes which increases the risk of the child getting the condition. 

This condition would be extremely hard to live with as you can tell from all the protection that must be worn at all times. I don’t have this condition and I will burn after being in the sun for less than an hour. Therefore, I couldn’t even imagine what it would be like burning after minutes. It is also scary that you will most likely develop skin cancer multiple times throughout your lifetime. I guess this is why vampires immediately burst into flames after they get in the sun. 

https://ghr.nlm.nih.gov/condition/xeroderma-pigmentosum

https://rarediseases.org/rare-diseases/xeroderma-pigmentosum/

The only time dogs are not a mans bestfriend...

I have always found the disease of rabies interesting. I was always told as a child not to play with raccoons while I was hunting or camping because they most likely have rabies. I never really understood what rabies was though. I always understood it as it makes an animal foam at the mouth and that I should avoid it. I have never really considered what the disease may do to an animal’s behavior. The only time I saw an animal with rabies was in the movie Old Yeller and I knew they killed the dog because of it. In the movie the dog got extremely aggressive after it was infected by a coyote with rabies. I never put the aggressive behavior and rabies together until I recently read an article about it. 

A little background information about rabies to start. When infected with the rabies virus, the central nervous system is infected causing disease to the brain and death. The symptoms of this disease is common with other illnesses. These symptoms usually are fever. Headache, and general weakness and discomfort. As the disease persists the more extreme symptoms come into play such as anxiety, confusions, partial paralysis, hallucinations, agitation, hypersalivation, and difficulty swallowing. After a few days of being infected death usually occurs. 

There has been a new study that has found that a tiny piece of the rabies virus can actually bind to inhibit certain receptors in the brain that regulates the behavior in an animal. This therefore leads to a communication error in the brain and leads to frenzied behaviors that favor the transmission of the virus. This means it leads to the behavior to make the animals bite and infect other mammals. They are hoping that now they will have a better chance in treating the infectious disease. The research itself has provided a molecular mechanism of have the infectious disease effects certain behaviors within the animal. 

99 percent of all rabies transmissions to humans is through dogs. There was no explanation of why the disease led to aggressive behavior. The rabies disease is made up of five genes and a dog has 20,000 genes that control the central nervous system. Somehow the five genes associated with disease is able to reprogram the dog’s behavior to make them lose their sense of fear and become aggressive and bite to spread the disease to another organism. The disease has adapted to affect an animal in a way that is knows that it will be spread to other organisms. 

Its creepy to me to think that a disease is able to do this to insure it will continue to live and spread to other animals. It’s crazy that it took so long for them to find why this disease causing animals to be aggressive. Out of all the genes that a dog has, only five are changed and that somehow effects the overall behavior of the animal. That really scares me but also shows how one small change can lead to disease in many organisms. Remember to keep your pets vaccinated!!

https://www.sciencedaily.com/releases/2017/10/171011091847.htm

https://www.cdc.gov/rabies/location/index.html