Leigh Syndrome Assignment | Online Homework Help
This paper is over the disease Leigh Syndrome. I have already written the first draft of this paper and my professor was less than pleased. I have attached the paper guidelines, my first draft, and my professors edit requirements. This will be the final draft of this paper and I need it to suffice. My professor is very adamant that we use only peer reviewed references. You may keep any references he was pleased with but please find new references to make up for the poor ones
Human Anatomy and Physiology Paper Guidelines
This is what it says in part in the syllabus. You will write a formal paper of between 8 and 10 pages in length. It will explore some problem associated with the integumentary, muscular, skeletal, blood, cardiovascular, or respiratory systems. It will explain what the problem is, what is being done to try and address the problem and attempt to explore what may be done to address the problem in the future. You will use peer reviewed references, you will use proper scientific citation format as I will detail for you.
So now I will expand on that a bit. First some points on format, moving from basic to more specific. the margins should be 1 inch, the font should be 12 point and I expect the paper to be double spaced. You do not need a title page, or at least I will not be counting it among the length of the paper. The style of citation I wish you to use is typical in science journals. You will cite articles by author(s) and year in the paper where you make use of their work. So it will look something like this.
Recently, work has shown that [inserted brilliant idea from the author here] can result in remarkable improvements [Moyer, 2006; Moyer and Meissner, 2005; Moyer et al, 2006]
If you can not determine the name of the author(s) or the year it was created, it is a very safe bet that it is not a peer reviewed reference. Your syllabus points out how you can access the journals online and they have the ability to select only peer reviewed publications. If you need more help, come see me, or talk with one of the librarians. By the way, not everything in a peer reviewed journal is indeed peer reviewed. At the end of your paper, you will list all of the references that you actually used in the paper. If you cited it, it must be listed, if it is listed it must have been cited. This will be alphabetical by author and will include the names of all authors, the year, the title of the article, the name of the journal, the volume number and the pages of the article. There are other ways to cite chapters or books, ask me about them if you need to. This would be an example of what a reference would look like in the bibliography. Note that in the paper it would have been cited as [Hesselman et al, 1989] because there are more than two authors.
Hesselman, D. M., B. J. Barber and N. J. Blake. 1989. The reproductive cycle of hard clams, Mercenaria spp. in the Indian River Lagoon, Florida. J. of Shellfish Research, 8(1): 43-49.
Web sites are not an acceptable reference. There are wonderful things on the web, they have their place, this is not that place. I want you to go a different route than the simple act of “googling” something many of you are used to. On the other hand, you do not necessarily want to ignore the web. You may get pointed to some things that you can then look up in the academic journals. In other words, it can be a good source of ideas to get you thinking about phrases to use, or find the names of people working in that field whose papers you might want to look up. There will be parts of this paper in which you will clearly be showing that the ideas being presented our sound, or at least accepted as valid in the scientific community, based on your backing up these thoughts with strong references that set them forth. Other parts of the paper, will not have much in the way of references, because they will be your own thoughts and ideas on the subject, based on what you have learned and read as you studied and reflected on the topic you chose.
One last stylistic comment before I say a word or two more about how you should be approaching the topic. If you directly quote someone you obviously need to put the phrase in quotation marks. However, you rarely see quotation marks in a scientific paper. It is considered very poor writing, as in something you left behind for the most part in high school if not earlier. What you do instead is paraphrase, put into your own words, the idea that the original author is trying to convey. You still must put in the citation, because you need to give credit to those who came up with the idea. Just because you changed the wording slightly it does not follow that the idea is somehow yours.
This is an upper level course, and as such I expect you to be using a higher level of reflection in your writing. I want more than just a recitation that this is the problem, and this is how it is best treated. You need to show me your ability to think. What needs to be done. What avenues do you think should be explored. What do you think could be done about this situation, from a scientific sense, or from a sociological sense, or from a cultural sense. What is the bottom line message that people should be aware of. Is there a particular segment of society, who need to react differently, have additional information, take specific actions [coaches, athletes in a particular sport, individuals with specific risk factors, etc.].
Leigh Syndrome
Leigh Syndrome, otherwise known as Leigh’s Disease, subacute necrotizing encephalopathy, or SNE, is a rare neurometabolic disorder commonly found in infants, but can be found later in life as well. This disorder is characterized as the direct, rapid deterioration of the brain, optic nerve, and spinal cord. Conditions of Leigh Syndrome were first described in the early 1950’s by Archibald Denis Leigh who was a British neuropsychiatrist (Simon et al., 2015). Being such a rare disorder, Leigh syndrome is estimated to affect about 1 in 30,000 to 1 in 40,000 people at birth. Moreover, Mitochondrion DNA-associated Leigh Syndrome is known to be even more rare, typically occurring at a rate of about 1 in 100,000 to 1 in 140,000 at birth (Bonfante et al., 2016).
In order to maintain homeostasis, the average human being carries certain levels of thiamine diphosphate kinase, used in aiding the process of adenosine triphosphate (ATP) production. However, lack of thiamine diphosphate kinase can be a root cause of this disorder. As a result, some patients can be given daily thiamine triphosphate supplements in order to increase thiamine levels in the body (Gerards, Sallevelt, and Smeets, 2016). The process of developing Leigh Syndrome begins in the mitochondria of a cell where the mitochondrial DNA mutations take place. The function of the mitochondria is used to convert the potential energy of glucose into adenosine triphosphate (ATP). The process that takes place to form adenosine triphosphate is called oxidative phosphorylation. More so, the carrying of DNA by mitochondria is called mitochondrial DNA (mtDNA) (Lake et al., 2016). There is specific information that is stored in the mitochondrial DNA, which have the enzymes that are essential for the production of adenosine triphosphate (ATP). In between 20% to 25% of the cases of Leigh’s Disease are mostly caused by mutation, which typically happens within the mitochondrial DNA. Another 10% to 20% of the mitochondrial-DNA mutations occur through MT-ATP6. The MT-ATP6 is a gene that is responsible for coding proteins in the last complex of the oxidative phosphorylation chain, complex IV, Adenosine Triphosphate Synthase. The ATP synthase complex is an enzyme that is known to generate ATP (Bonfante et al., 2016). This means that without the ATP synthase, there will be no production of Adenosine Triphosphate. On the other hand, the most common mutation of MT-ATP6 in Leigh syndrome is called point mutation. The Point mutation in nucleotide 8993 is known to change amino acid base Thymine to Guanine. Other point mutations are known to affect the energy levels in the cell. Sometimes the genes of MT-ND2, MT-ND3, MT-ND4, MT-ND5, MT-ND6 and MT-CO1. The Mitochondrial DNA is passed down maternally to their children through a process called maternal inheritance. This can happen from a mother who is affected even if the father is not and vice versa.
Leigh’s Disease is commonly found in infant’s between the ages of three months and two years. This disorder escalates and becomes serious rather quickly. Symptoms of Leigh’s Disease are commonly found to affect the patient neurologically, which tends to cause loss of memory down the line, vomiting, irritability, loss of appetite, seizure activity (Lake et al., 2016). The symptoms grow quickly and cause lack of muscle tone, weakness, episodes of lactic acidosis. These symptoms affect the function of the patient’s respiratory system and kidneys. According to varying research done, studies show that enzymatic deficiency can be the reason for increasing symptoms (Bonfante et al., 2016). Patients who suffer from Leigh syndrome tend to have functional issues with the mitochondrial respiratory chain complex or the pyruvate dehydrogenase complex. Leigh syndrome is a disorder that can be inherited from parents as an autosomal trait. There are other additional ways of inheriting this disorder, such as X-linked recessive and maternal inheritance due to mitochondrial DNA. How you inherit Leigh Syndrome can be determined by clinical and differential diagnosis (Thorburn, Rahman & Rahman, 2017). The laboratory and genetic testing are done to check for defects within the cell. The clinical findings show that when a person has dystonia, nystagmus, and is suffering from damage to the basal ganglia and the brain stem, these are potentially caused by Leigh syndrome. Other symptoms of Leigh Syndrome can be damage to the brain, such as hypertrichosis and neurologically, which results in deafness (Gerards, Sallevelt & Smeets, 2016). Some results from the laboratory can show lactic acidosis and/or hyperalaninemia, which can suggest the presence of Leigh syndrome.
The treatment of Leigh syndrome is directed according to the specific symptoms of each individual because people tend to show different signs having different effects. A common form of treatment for Leigh Syndrome is the use of standard therapies that are based primarily on open-labeled studies, case reports and personal observations (Gerards, Sallevelt & Smeets, 2016). Generally, treatment is began by instructing a team of different specialists such as cardiologists, pediatricians, neurologists, audiologists, and eye specialists. Different doctors have recommended supportive care, which includes the treatment of dystonia, seizure, and cardiomyopathy, also involving the implementation of a healthy balanced diet (Simon et al., 2015). Occasionally, anesthesia can be used as a form of treatment but again, it can cause huge problems for the patient, such as respiratory failure. Because of the risks involved, anesthesia should only be considered for treatment as the last result(Lake et al., 2016). Another form of treatment is the use of thiamine, which contains Vitamin B1 or thiamine derivatives. Most patients that are suffering from Leigh syndrome are also affected by pyruvate dehydrogenase enzyme complex deficiency. A diet containing low carbohydrates and high fat is recommended (Thorburn, Rahman& Rahman, 2017). The progression of Leigh Syndrome symptoms should be checked regularly to ensure that they are managed accordingly. An evaluation with a neurologist, audiologist, ophthalmologist, and cardiologist is necessary so that they can give the best instructions on what to do.
Leigh syndrome is considered to be a very rare disease; however, there are possibilities that it can affect many people in the future because it is genetic. If one person has this disorder in their genetic makeup, they have the possibility of passing this disorder onto their children. As a result, studies should be conducted on the best ways that the cells can be treated to make sure that this disease cannot be passed onto the next offspring (Thorburn, Rahman & Rahman, 2017). This will require learning more about the mitochondria and how it is affected by mutations. People in society most likely to be affected by this disease are the ones lacking thiamine in their body. Healthcare facilities should make sure that people recieve good education and awareness about Leigh syndrome to better understand how it can be of great danger to them and their offspring (Bonfante et al., 2016). It is the right of the community to take care of each other by passing education from one person to another through helping them see the importance of treatment. Health care practitioners also carry the responsibility of caring for patients that have Leigh syndrome and giving out education that will be beneficial moving forward. Lastly, maintaining a healthy lifestyle is a fundamental aspect that affects the way people live. Eating a balanced diet and doing regular exercises has shown great improvement in the disorder.
References
Bonfante et al. (2016). The neuroimaging of Leigh syndrome: case series and review of the literature. Pediatric radiology, 46(4), 443-451.
Gerards, M., Sallevelt, S. C., & Smeets, H. J. (2016). Leigh syndrome: resolving the clinical and genetic heterogeneity paves the way for treatment options. Molecular genetics and metabolism, 117(3), 300-312.
Lake et al. (2016). Leigh syndrome: one disorder, more than 75 monogenic causes. Annals of neurology, 79(2), 190-203.
Simon et al. (2015). Mutations of human NARS2, encoding the mitochondrial asparaginyl-tRNA synthetase, cause nonsyndromic deafness and Leigh syndrome. PLoS genetics, 11(3).
Thorburn, D. R., Rahman, J., & Rahman, S. (2017). Mitochondrial DNA-associated Leigh syndrome and NARP. In GeneReviews®[Internet]. University of Washington, Seattle.
