Cerebrospinal Fluid Lactate Levels Assignment
Order ID:89JHGSJE83839 Style:APA/MLA/Harvard/Chicago Pages:5-10 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
Excellent Quality
95-100%
Introduction 45-41 points
The background and significance of the problem and a clear statement of the research purpose is provided. The search history is mentioned.
Literature Support
91-84 points
The background and significance of the problem and a clear statement of the research purpose is provided. The search history is mentioned.
Methodology
58-53 points
Content is well-organized with headings for each slide and bulleted lists to group related material as needed. Use of font, color, graphics, effects, etc. to enhance readability and presentation content is excellent. Length requirements of 10 slides/pages or less is met.
Average Score
50-85%
40-38 points
More depth/detail for the background and significance is needed, or the research detail is not clear. No search history information is provided.
83-76 points
Review of relevant theoretical literature is evident, but there is little integration of studies into concepts related to problem. Review is partially focused and organized. Supporting and opposing research are included. Summary of information presented is included. Conclusion may not contain a biblical integration.
52-49 points
Content is somewhat organized, but no structure is apparent. The use of font, color, graphics, effects, etc. is occasionally detracting to the presentation content. Length requirements may not be met.
Poor Quality
0-45%
37-1 points
The background and/or significance are missing. No search history information is provided.
75-1 points
Review of relevant theoretical literature is evident, but there is no integration of studies into concepts related to problem. Review is partially focused and organized. Supporting and opposing research are not included in the summary of information presented. Conclusion does not contain a biblical integration.
48-1 points
There is no clear or logical organizational structure. No logical sequence is apparent. The use of font, color, graphics, effects etc. is often detracting to the presentation content. Length requirements may not be met
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Cerebrospinal Fluid Lactate Levels Assignment