Cerebrospinal Fluid Lactate Levels Assignment
Order ID 53563633773 Type Essay Writer Level Masters Style APA Sources/References 4 Perfect Number of Pages to Order 5-10 Pages Description/Paper Instructions
Cerebrospinal Fluid Lactate Levels Assignment
A 34-year-old woman and her 1-month-old newborn were seen by a genetic counselor in the neonatal intensive care unit at a major medical center. The neonatologist was suspicious that the newborn boy had a genetic condition and requested a genetic evaluation. The newborn was very pale, was failing to thrive, had diarrhea, and had markedly increased serum cerebrospinal fluid lactate levels. In addition, he had severe muscle weakness with chart notes describing him as “floppy,” and he had had two seizures since birth.
The neonatologist reported that the infant had liver failure, which would probably result in his death in the next few days. The panel of tests performed on the infant led the neonatologist and the genetic counselor to the diagnosis of Pearson syndrome. The combination of marked metabolic acidosis and abnormalities in bone marrow cells is highly suggestive of Pearson syndrome.
Pearson syndrome is associated with a large deletion of the mitochondrial (mt) genome. The way the deletion-containing mtDNA molecules are distributed during mitosis is not known. However, it is assumed that during cell division daughter cells randomly receive mitochondria carrying wild type (WT) or mutant mtDNA.
Mitochondrial DNA is, theoretically, transmitted only to off spring through the mother via the large cytoplasmic component of the oocyte. Nearly all cases of Pearson syndrome arise from new mutational events. Mitochondria have extremely poor DNA repair mechanisms, and mutations accumulate very rapidly.
Most infants with Pearson syndrome die before age 3, often as a result of infection or liver failure. A diagnosis of Pearson syndrome results in an extremely grave prognosis for the patient. Unfortunately, at this point, treatment can be directed only toward symptomatic relief.
- How would a large deletion in the mitochondrial genome cause a disease?
- Why doesn’t the mother have the disease if she has mutant mitochondrial DNA?
- How would you react to hearing this diagnosis? How would you counsel a couple through this kind of situation?
RUBRIC
QUALITY OF RESPONSE NO RESPONSE POOR / UNSATISFACTORY SATISFACTORY GOOD EXCELLENT Content (worth a maximum of 50% of the total points) Zero points: Student failed to submit the final paper. 20 points out of 50: The essay illustrates poor understanding of the relevant material by failing to address or incorrectly addressing the relevant content; failing to identify or inaccurately explaining/defining key concepts/ideas; ignoring or incorrectly explaining key points/claims and the reasoning behind them; and/or incorrectly or inappropriately using terminology; and elements of the response are lacking. 30 points out of 50: The essay illustrates a rudimentary understanding of the relevant material by mentioning but not full explaining the relevant content; identifying some of the key concepts/ideas though failing to fully or accurately explain many of them; using terminology, though sometimes inaccurately or inappropriately; and/or incorporating some key claims/points but failing to explain the reasoning behind them or doing so inaccurately. Elements of the required response may also be lacking. 40 points out of 50: The essay illustrates solid understanding of the relevant material by correctly addressing most of the relevant content; identifying and explaining most of the key concepts/ideas; using correct terminology; explaining the reasoning behind most of the key points/claims; and/or where necessary or useful, substantiating some points with accurate examples. The answer is complete. 50 points: The essay illustrates exemplary understanding of the relevant material by thoroughly and correctly addressing the relevant content; identifying and explaining all of the key concepts/ideas; using correct terminology explaining the reasoning behind key points/claims and substantiating, as necessary/useful, points with several accurate and illuminating examples. No aspects of the required answer are missing. Use of Sources (worth a maximum of 20% of the total points). Zero points: Student failed to include citations and/or references. Or the student failed to submit a final paper. 5 out 20 points: Sources are seldom cited to support statements and/or format of citations are not recognizable as APA 6th Edition format. There are major errors in the formation of the references and citations. And/or there is a major reliance on highly questionable. The Student fails to provide an adequate synthesis of research collected for the paper. 10 out 20 points: References to scholarly sources are occasionally given; many statements seem unsubstantiated. Frequent errors in APA 6th Edition format, leaving the reader confused about the source of the information. There are significant errors of the formation in the references and citations. And/or there is a significant use of highly questionable sources. 15 out 20 points: Credible Scholarly sources are used effectively support claims and are, for the most part, clear and fairly represented. APA 6th Edition is used with only a few minor errors. There are minor errors in reference and/or citations. And/or there is some use of questionable sources. 20 points: Credible scholarly sources are used to give compelling evidence to support claims and are clearly and fairly represented. APA 6th Edition format is used accurately and consistently. The student uses above the maximum required references in the development of the assignment. 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The paper has slight errors within the paper. This can include small errors or omissions with the cover page, abstract, page number, and headers. There could be also slight formatting issues with the document spacing or the font Additionally the paper might slightly exceed or undershoot the specific number of required written pages for the assignment. 10 points: Student provides a high-caliber, formatted paper. This includes an APA 6th edition cover page, abstract, page number, headers and is double spaced in 12’ Times Roman Font. Additionally, the paper conforms to the specific number of required written pages and neither goes over or under the specified length of the paper. GET THIS PROJECT NOW BY CLICKING ON THIS LINK TO PLACE THE ORDER
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