Understanding Genetic Disorders and Finding Better Treatment Through Research

Posted by on Sep 16, 2016 in Writing Assignment 1 | No Comments

Human genetic disorders arise from mutations in DNA sequences. Due to their origin in DNA, which is found in all body cells, it is not plausible to cure most of the disorders completely, but there are treatments to manage them and live a more normal life. However, genetic disorders continue to affect millions of people worldwide and even cause death. The most common disorders include Fragile X Syndrome (FXS) and breast cancer. Learning about these two disorders can give people a better understanding of how genetic disorders work and how they are treated.

fxs

Figure 1- Comparison of normal FMR1 gene sequence to a fully mutated FMR1 gene Source: Garber, Kathryn B., Jeannie Visootsak, and Stephen Warren T. “Fragile X Syndrome.” Nature.com. Nature Publishing Group, 9 Apr. 2008. Web. 09 Sept. 2016.

FXS is an inherited X-linked disorder that is most known for causing mental retardation. It is a result of a mutation in a specific gene called FMR1 that codes for a protein that regulates dendrites (Garber 2008).  As shown in Figure 1, mutations occur when there are too many repeats of CGG. The mutated gene causes over-synthesis of these proteins and reduces the strengths of synapses. There are many symptoms of FXS including learning disabilities, mental retardation, and attributes of autism. Males with FXS have more cognitive problems and females with FXS have more emotional problems (Garber 2008). Emotional problems range from mood disorders and social anxiety to impulsiveness and hyperactivity (Garber 2008). Current treatments mostly deal with managing symptoms of FXS through therapy and medication, but research is underway to treat FXS at the molecular level. Since the gene that causes FXS was identified, it is possible to learn more about the gene and its role in the body to find a treatment that targets FXS directly. The protein FMRP that is coded by FMR1 has other roles, including one in the development of synapses, that need to be studied more to understand the gene better (Bassell 2008). Knowing the mechanisms behind the processes the protein is involved in can lead to treatment not only for FXS, but for similar disorders.

FXS is an inherited X-linked disorder that is most known for causing mental retardation. It is a result of a mutation in a specific gene called FMR1 that codes for a protein that regulates dendrites (Garber 2008).  As shown in Figure 1, mutations occur when there are too many repeats of CGG. The mutated gene causes over-synthesis of these proteins and reduces the strengths of synapses. There are many symptoms of FXS including learning disabilities, mental retardation, and attributes of autism. Males with FXS have more cognitive problems and females with FXS have more emotional problems (Garber 2008). Emotional problems range from mood disorders and social anxiety to impulsiveness and hyperactivity (Garber 2008). Current treatments mostly deal with managing symptoms of FXS through therapy and medication, but research is underway to treat FXS at the molecular level. Since the gene that causes FXS was identified, it is possible to learn more about the gene and its role in the body to find a treatment that targets FXS directly. The protein FMRP that is coded by FMR1 has other roles, including one in the development of synapses, that need to be studied more to understand the gene better (Bassell 2008). Knowing the mechanisms behind the processes the protein is involved in can lead to treatment not only for FXS, but for similar disorders.

Breast cancer is one of the most common cancers in the United States. It is the second leading cause of death by cancer. As of 2013, there was a 12.3% chance that a woman in the United States would be diagnosed with breast cancer (DeSantis 2013). It is cancer caused by a mutation in breast cells that makes breast cells grow out of control. Fortunately, between 1990 and 2010, there was a 34% decrease in the breast cancer death rate (DeSantis 2013). Advancements in treatment and early detection of breast cancer due to increased screening and awareness have helped immensely. Chemotherapy is one popular treatment, but at the cost of great emotional and physical distress (Pandey 2006). Patients have reported greater anxiety, depression, and nausea, and lower self-esteem after beginning chemotherapy (Pandey 2006). Some researchers are researching whether chemotherapy is necessary for breast cancer treatment to help alleviate the pain that patients go through. Surgery to remove breast cancer tumors is another option that patients have. There are patients who undergo surgery who have to live with chronic pain (Poleshuck 2006). Breast cancer treatments are getting better, but patients continue to endure psychological trauma and physical pain. More research is needed to improve treatments for breast cancer patients.

Advancements in science have helped scientists and medical professionals understand genetic disorders and find treatment options for them. Fragile X Syndrome and breast cancer two common disorders that can be managed due to these advancements. However, more research can help people understand these disorders better and lead to better treatments. In the future, perhaps people with genetic disorders can lead normal and healthy lives.

References

Bassell GJ, Stephen WT: Fragile X Syndrome: Loss of Local MRNA Regulation Alters Synaptic Development and Function. Neuron 2008; 60: 201-214.

DeSantis C, Ma J, Bryan L: Breast Cancer Statistics, 2013. CA: A Cancer Journal for Statistics 2014; 64: 52-62.

Garber KB, Visootsak J, Stephen WT: Fragile X Syndrome. European Journal of Human Genetics16: 666-672.

Pandey M, Gangadharan SP, Nandkumar D, Bejoy TC, Badridien HM, and Rita K: Distress, Anxiety, and Depression in Cancer Patients Undergoing Chemotherapy. World Journal of Surgical Oncology 20064.

Poleshuck EL, Kratz J, Andrus CH, Hogan LA, Jung BF, Kulick DI, Dworkin RH: Risk Factors for Chronic Pain Following Breast Cancer Surgery: A Prospective Study. The Journal of Pain 2006; 7: 626-34.

 

 

 

Argument for the Practical Applications of the Study of Language

Posted by on Sep 16, 2016 in Writing Assignment 1 | No Comments

Roughly 7,102 languages are spoken worldwide. As such, an investigation into the nature of language lends itself to a virtually unlimited store of methods and conclusions. The scientific study of language is not as straightforward as one might assume. There are social, philosophical, scientific, and grammatical factors to take in to account.

Sociolinguistics: An International Handbook of the Science of Language and Society makes quite the claim in reference to the spread of language and its bearing on the world moving forward. It is asserted that certain, more prolific, languages can be seen, not only as methods of communication, but as “language empires”. Specifically, viewing English as one of these language empires gives its spread an imperial tone. Sociolinguistics claims that English can be seen as “the killer language”. This bears serious consequences for the rest of the world and the preservation of cultures. To quantify this claim, in just under about 400 years (1588-1952) the worldwide number of English speakers rose from about 5 to 7 million speakers (mainly living within the actual British Isles) to about 250 million English speakers worldwide (with the overwhelming majority outside of the actual boundaries of the British Isles). In other words, this is an approximately 4000 percent increase in English speakers in about 400 years or an average 10 percent increase every year since 1588. This type of anthropological and sociolinguistic research into English as a language lends itself to many questions about the future and what kind of policies should be taken in reference to language and it’s natural (or forced) spread.

The diagram below, produced by UNESCO, displays these sorts of language empires visually. Pictured are the 23 most spoken languages in the world with each bubble identifying the countries that the language is spoken in. For example, the largest bubble is Chinese (in this case Chinese is counted as a ‘macrolanguage’ including it’s many dialects) and the largest section of the bubble is China with 1,152 million speakers out of a total 1,192. The smaller bubbles that are still a part of the larger Chinese section represent the other nations with Chinese speakers, such as Taiwan with 21.8 million speakers. However, to clarify, Chinese is not a ‘killer language’ in the same way English is because the vast majority of its speakers still reside within the actual nation of China.

 

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Figure 1. The 23 Most Spoken Languages. This figure visually illustrates the worldwide use of the 23 most spoken languages by first dividing the circle by language and then each language by nation.

In another vein, language need not only be seen on a surface level as the sort of builder of empires. Instead, language can be seen as the very basis upon which we build our own views of ourselves. Harpham in “Do We Know What We Are? The Science of Language and Human Self-Understanding” argues that the very grammatical basis of words and language shapes our very philosophical viewpoints on what humanity is and by extension what exactly constitutes the oft spoken about concepts of “natural human rights”, “crimes against humanity”, and “the sanctity of human life”.

If taken further, the study of language can help us solve the very current and concrete problems that arise in situations like ‘the refugee crisis’ and increased immigration. We can use the study of language to reveal how children’s views about other’s ethnicities, religions, nationalities, etc. are shaped. Instead of using language to look inward as Harpham does, The Development of Language, seeks to study how language affects our outward perceptions of others and why our attitudes towards peoples are the way they are. To revisit Britain as a sort of numerical example, 32 percent of all Londoners are born outside of the U.K. with over 300 languages being spoken as a first language in London schools. These numbers represent the very real need for the creation of a sort of language based program that teaches children about their peers who are increasingly diverse.

We can furthermore conceivably study languages to look back at the past instead of towards the future, which can be just as eye-opening. Tamil is one of the world’s oldest languages and has been classified as one of the only surviving classical languages. Here a classical language means that the language as it is today can be directly traced back to what it was in ancient times. For example, Latin is a classical language. However Latin, like almost every other classical language has died out. So, as a classical language still in wide use, a systematic and scientific analysis such as that conducted by Prakasar in “Place of Tamil in the Science of Language” has the potential to unlock the very origins of language and thought. Looking back at Figure 1, one can see that Tamil has 68.8 million speakers, with 60.7 million in India and the remaining 8.1 million in Sri Lanka and Malaysia.

Almost all research into language can be traced back to the work of Max Müller as seen in The Anthropological Review. It can be said that Müller did for language what Freud did for psychology. So while all of his conclusions may not be correct, they can effectively be used as the very building blocks of current and future sociolinguistic study. As such, a reading of his work serves any work in the realm of language well.

As a whole, all of these conclusions made on the very broad topic of language have the ability, in one way or another, to bring us toward a brighter future. With language we can fight neocolonialism and more readily accept refugees. Conversely, we can learn more about the origin of human thought and human self-conception. All of this building upon the work of linguists of old. No matter it’s end goal, it is clear that the study of language provides us with much more than simple explanations of grammar or syntax. This practical application  has the very real ability to change human thought and knowledge moving forward.

 

References

Barrett, M.D. (Ed.). (1999). Introduction. The Development of Language (pp. 10-14). Hove, United Kingdom: Psychology Press.

Charnock, R.S. (1863). On the Science of Language. The Anthropological Review, 1(2), pp. 193-215.

Harpham, G.G. (2009). How Do We Know What We Are? The Science of Language & Human Self-Understanding. Daedalus, 138(3), pp. 79-91.

Hamel, R.E. (2006). The Development of Language Empires. In A. Ulrich, N. Dittmar, K. J. Mattheier & P. Trudgill (Eds.), Sociolinguistics/Soziolinguistik: An International Handbook of the Science of Language and Society (pp. 2240-2258). Berlin, New York: Walther de Gruyter.

Prakarsar, S.G. (1927). Place of Tamil in the Science of Language. The Journal of the Ceylon Branch of the Royal Asiatic Society of Great Britain & Ireland, 30(80), pp. 410-435.

 

The Medical Consequences of Human Space Travel to Mars

Posted by on Sep 16, 2016 in Writing Assignment 1 | No Comments

For the video project, I have decided to investigate the dangers and complications to an astronaut’s health aboard a proposed mission to Mars. This includes the psychological consequences of being on a space ship for months, the risks of cancer and cell damage from being exposed to solar and cosmic radiation, and bone and muscle loss as a result of living in zero gravity. Past and current research about humans in space can aid in my understanding.

One of the most overlooked dangers when it comes to an astronaut’s health is the psychological consequence of a long-term space mission spent in a crammed vessel. Though an astronaut’s day would be very occupied with research, records, and transmission, feelings of loneliness and anxiety are always going to be an underlying response. A study conducted a psychological analysis of 6 males confined in a 520-day Mars mission simulation in a 550 m3 chamber (Basner et al., 2014). Mood states and a series of categorical psychological evaluations in the form of questionnaires were given to the participants weekly. The study found that crew members exhibited depression, insomnia, and stress, among other mental states, leading to an increase in miscommunication and conflicts with mission control. This is why astronauts on the International Space Station are allowed to bring certain forms of entertainment aboard, e.g. Chris Hadfield’s famous cover of ‘Space Oddity’ from the ISS was made with a custom built and approved guitar.

Figure 1: Graph comparing the effectiveness of different shield materials against Galactic Cosmic Rays and Solar Particle Events. Upper panel show point dose equivalent per year while bottom panel shows effective dose equivalent per year, with aerial-density of the shield on the x-axis.

Figure 1: Graph comparing the effectiveness of different shielding materials against Galactic Cosmic Rays and Solar Particle Events. Upper panel shows point dose equivalent per year while the bottom panel shows effective dose equivalent per year, on the y-axes, with aerial-density of the shield on the x-axis.

Probably the most dangerous and preventive aspect of a long-term space mission is the exposure to solar and cosmic radiation. One data value used to measure the affects of radiation is Risk of Exposure-Induced Death (REID), which is a statistical percentage for the risk of fatality from radiation-induced cancer based on an average population. NASA’s precautionary standard for astronauts aboard the ISS is no more than 3% REID, which translates to the risks of 23 out 100 people of an average population (Escobedo and Costello, 2016). Figure 1 compares the effectiveness of various radiation shielding materials, with shield areal-density on the x-axis in g/cm2 and the dose equivalent of Galactic Cosmic Rays (GCR) and Solar Particle Events (SPE) per year on the y-axis (Cucinotta et al., 2005). The graph on the top shows the actual dose equivalent of radiation, called point dose equivalent, on the y axis while the bottom graph shows effective dose, the actual radiation absorbed by tissue and organs. Aluminum, among several materials, is quite successful in blocking SPE, which is why it is the prime shielding material for the ISS and other space vessels. However, all of the materials are relatively insufficient in blocking GCR, which is a major problem.

Lastly, bone loss and muscle atrophy as a result of humans being in a zero gravity environment in space can be detrimental to an astronaut’s health and condition upon reaching Mars and/or returning to Earth. A study measured the effects of bone and skeletal mineral loss in the spine and hip bone of 14 crew members aboard the International Space Station for 4-6 months, comparing the measurements of bone density and volume before and after their missions (Thomas et al., 2004). The crewmembers’ ranges of bone loss were 0.8-0.9% per month in the lumbar spine and 1.2-1.5% in the hip bone. These results are despite exercising routines on the ISS designed to combat, in part, bone and muscle loss, making them alarming figures for a potential mission to Mars which would last multiple months. Muscle atrophy, a common condition for patients confined to one position for extended periods, is quite damaging for astronauts in zero-gravity space, resulting in the loss of muscle mass and strength. A study used Bioartifical Muscle tissue (BAM) tested in both ground (Earth) and flight (microgravity) conditions to determine the in vitro effects of muscle atrophy (Vandenburgh et al., 1999). The study found that in flight conditions for 9-10 days, there was a 10-12% decrease in myofiber (muscle fiber) size as compared to the myofibers grown in normal conditions. These two studies, one conducted on astronauts and the other in vitro, demonstrate the significant physiological effects of bone and muscle loss expected for astronauts in a Mars mission.

Human space travel to Mars is a topic I have always been enthusiastic about, especially since recent insight into Mars’ past and after a serious proposal for a manned mission. Though many people share the dream of being a Mars astronaut for the pioneering value, they may not realize and appreciate the enormous risks an astronaut faces during such a mission and what the chosen class will be signing up for. This is why I believe a video on these risks, including radiation, mental illness, and bone and muscle loss, is so important and informative.

 


Works Cited

 

Basner, Mathias, David F. Dinges, Daniel J. Mollicone, et al. “Psychological and Behavioral Changes during Confinement in a 520-Day Simulated Interplanetary Mission to Mars.” PLOS ONE. 9, no. 3 (March, 2014) [Cited 10 September 2016].

Cucinotta, Francis A., Kim, Myung-Hee Y. Kim, Lei Ren. Managing Lunar and Mars Mission Radiation Risks Part I: Cancer Risks, Uncertainties, and Shielding Effectiveness. NASA/TP-2005-213164/PT1. Washington, DC: National Aeronautics and Space Administration, Jul 1, 2005. (20050196720: NTRS)

Escobedo, Victor M. Jr, Kirt Costello. “International Space Station Internal Radiation Monitoring (ISS Internal Radiation Monitoring) – 07.14.16.” National Aeronautics Space Administration. (July 2016) [Cited 10 September 2016].

Lang, Thomas, Adrian LeBlanc, Harlan Evans, et al. “Cortical and Trabecular Bone Mineral Loss From the Spine and Hip in Long-Duration Spaceflight.” Journal of Bone and Mineral Research. 19, In Wiley Online Library. (March, 2004) [Cited 10 September 2016].

Vandenburgh, Herman, Joseph Chromiak, Janet Shansky, et al. “Space travel directly induces skeletal muscle atrophy.” The FASEB Journal. 13, no. 9 (June, 1999) [Cited 10 September 2016].

The Transiency in Art Conservation and Our Approaches for Restoration

Posted by on Sep 16, 2016 in Writing Assignment 1 | No Comments

Art conservation is the care and preservation of artwork with historical relevancy. It represents the unique merging of art, art history and science, where the methods and knowledge of these disciplines are vital in its application. Art conservators must determine the best way to preserve artwork, keeping scientific limitations and artists’ intentions in mind. Though the practice of art conservation is straightforward, there is much debate about the intentions of the art conservator versus the artist, especially since most artists in question are deceased. It is also not possible to restore paintings and sculptures to their exact original state, thus slightly changing the work in attempts to preserve it, an irony that leaves room for controversy. Conservators must answer the question of whether or not a particular artist would have wanted their work to be preserved, and the subjectivity of art as a whole further complicates this. However, modern artists like Robert Rauschenberg have acknowledged this debate, and are fully aware that though their work is not permanent, it does not affect the materials they choose to create art with (Dykstra).

The biggest challenge of art conservation is that no method of art or preservation is permanent: everything is subject to chemical decomposition and deterioration, and thus the art conservation process is always a cycle (Dykstra). Because of the fragile and irreplaceable nature of artwork, it must be examined in a noninvasive way, or minimal sampling at most. One method with minimal sampling is optical microscopy and infrared microspectroscopy which allows conservators to determine the sequence of paint layers, vital information in understanding how this artwork will decay and knowing how to treat it (Fig 1). Noninvasive methods include raman microspectroscopy, shown in Fig. 2, which identifies pigments used in paintings, and reflectance spectroscopy, shown in Fig. 3, which also identifies pigments in addition to monitoring how colors fade. For my final video project, I would like to focus on at least one of these methods regarding a specific painting, should I be able to find appropriate articles and sources.

Fig. 1

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Optical microscopy and infrared microspectroscopy, which determines the sequence of paint layers.

Fig. 2

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Raman microspectroscopy, a non-invasive method that identifies pigments.

Fig. 3

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Reflective spectroscopy, a non-invasive art conservation method that identifies pigments and how colors fade.

References

Berger, Gustav A. “A Structural Solution for the Preservation of Canvas Paintings.Studies in Conservation 29.3 (1984): 139-42. Web.

Carrier, David. “Art and Its Preservation.” The Journal of Aesthetics and Art Criticism 43.3 (1985): 291-300. Web.

Dykstra, Steven W. “The Artist’s Intentions and the Intentional Fallacy in Fine Arts Conservation.” Journal of the American Institute for Conservation 35.3 (1996): 197-218. Web.

Karlen, Peter H. “Aesthetic Quality and Art Preservation.” The Journal of Aesthetics and Art Criticism 41.3 (1983): 309-22. Web.

Leona, Marco. “The Materiality of Art: Scientific Research in Art History and Art Conservation at the Metropolitan Museum.” The Metropolitan Museum of Art Bulletin 67.1 (2009): 4-11. Web.

TSA: Are we really safer?

Posted by on Sep 15, 2016 in Writing Assignment 1 | No Comments

Since September 11, 2001, airport screening procedures in the US have been continuously evolving with the creation of the Transportation Security Administration (TSA). With the implementation of new technology being used in airports, air travel has been more stringent than ever. The new question being raised is whether these new security procedures will “make us safer” or just “move the targets.”

In the case of the deadly attack at Istanbul’s Ataturk International Airport, thecity’s main international airport, highlighted a difficult truth in airport security. Subjecting passengers to more security before they board a plane doesn’t necessarily deter terrorists. The major differences in security procedures begin with how passengers enter the airport. At Ataturk, vehicles are screened about a mile away with some cars being pulled over for additional search (Blalock). Passenger are then passed through metal detectors and their bags scanned before entering the terminal. This differs from US airports where anyone can enter the airport terminal without being screened. Turkish officials reported that the terrorists were turned away at the initial screening but returned with assault rifles entering the building forcibly. According to Mark Stewart, a professor at the University of Newcastle in Australia who studies how to protect against infrastructure attacks, “attempting to ‘protect’ against mass casualty attacks is a somewhat hopeless task due to the near infinite number of targets.” He later noted that a “deterred terrorist will just go elsewhere” (Perisco).

In the attack at Brussels Airport in March of 2016, there was no security check to enter the airport terminal and the terrorists just entered the building and detonated their explosives. Since that incident, all passengers were required to be dropped off at nearby parking lots instead of the airport terminal directly. The security in the German airports are much more thorough which makes lines longer and overcrowding more common. Trade offs commonly include passengers missing their flights and connections costing airlines major financial burden on rerouting new itineraries. Terrorists also view crowds of people as a major inefficiency and view them as ‘holes’ in airport security making them more susceptible to attacks (Seidenstat).

Figure 2: Statistics of TSA security and Firearms discovered in Airports

Figure 2: Statistics of TSA security and Firearms discovered in Airports

With new devices such as full-body scanners that use ‘millimeter wave’ detection to create a 3D image of the body, airport security officials are able to quick rule out potential threats concealed in clothing and on the body. With MRI technology being used in baggage scanners, liquids and other electronics can be passed through the machine without being removed reducing queue time (Frederickson).

 

Figure 3: Top Number of Airports where guns are confiscated by the TSA.

Figure 3: Top Number of Airports where guns are confiscated by the TSA.

The passenger screening process is constantly trying to strike a balance between offering security while making travel quick and efficient. This balancing act not only has important implications within passenger security but also for the airline industry that is faced with volatile energy prices and sometimes burdensome labor agreements (Frederickson).

 

References:

Blalock, Garrick, Kadiyali Vrinda, and Simon Daniel H. “The Impact of Post‐9/11

Airport Security Measures on the Demand for Air Travel.” The Journal of Law & Economics 50.4

(2007): 731-55. Web.

http://www.jstor.org/stable/10.1086/519816

Persico, Nicola, and Todd Petra E. “Passenger Profiling, Imperfect Screening, and Airport

Security.” The American Economic Review 95.2 (2005): 127-31. Web.

http://www.jstor.org/stable/4132803

Seidenstat, P. (2004), Terrorism, Airport Security, and the Private Sector. Review of Policy

Research, 21: 275–291. doi:10.1111/j.1541-1338.2004.00075.x

Frederickson, H. G. and LaPorte, T. R. (2002), Airport Security, High Reliability, and the

Problem of Rationality. Public Administration Review, 62: 33–43. doi:10.1111/1540-

6210.62.s1.7