MN 580 Primary Care of children and Adolescence Health Discussion

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Topic 1: Pain Management, Palliative Care, Metabolic, Endocrine, Genetic, and Chronic Conditions and Management Plans

This week, there will be a variety of conditions assigned to you by your instructor pertaining to metabolic, endocrine, genetic, and chronic conditions. You are expected to present your initial topic including, but not limited to, the following items:

  • Pathophysiology
  • Epidemiology
  • Physical exam findings
  • Differential diagnoses and rationale
  • Management plan to include diagnostic testing, medications if applicable, follow-up plans and referrals if needed

In addition, you are required to follow the Discussion Board grading rubric and respond to at least three of your classmates. Topics may include:

  1. Neurofibromatosis

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Neurofibromatosis Physical exam findings t he earliest clinical finding usually seen in children with NF1 is multiple café-au-lait spots. These may be present at birth or may appear over time, frequently increasing in size and number throughout childhood Subcutaneous or cutaneous neurofibromas are seen rarely in young children but appear over time in older children, adolescents, and adults Differential diagnoses and rationale Management plan to include diagnostic testing, medications if applicable, follow-up plans and referrals if needed Pathophysiology The pathophysiology of a neurofibromatosis consists of a protein called the NF1 gene. This protein is known to suppress tumors and serves as a signal regulator or cell proliferation and differentiation. When this protein/gene is interfered with a dysfunction takes place and can affect the regulation and cause uncontrolled cell proliferation. The Schwann cells in neurofibroma’s have a nutation in the NF1 alleles. (Amy (July 2009).) Epidemiology According to the “Primary Central Nervous System” (Patrick Y. December, 2016), NF1 occurs in 1 in 3000 individuals and is equally prevalent among men and women and is the most common inherited nervous system disorders and those whom are affected have a reduced life expectancy by 10-15 years than the average person. Boyd, Kevin P.; Korf, Bruce R.; Theos, Amy (July 2009). "Neurofibromatosis type 1". Journal of the American Academy of Dermatology. 61 (1): 1–14. doi:10.1016/j.jaad.2008.12.051. PMC 2716546. PMID 19539839. Norden, Andrew D.; Reardon, David A.; Wen, Patrick Y. (16 December 2010). Primary Central Nervous System Tumors: Pathogenesis and Therapy. Springer Science & Business Media. p. 459. ISBN 9781607611660. Archived from the original on 10 June 2016. Ferner, R. E., Huson, S. M., Thomas, N., Moss, C., Willshaw, H., Evans, D. G., … Kirby, A. (2007). Guidelines for the diagnosis and management of individuals with neurofibromatosis 1. Journal of medical genetics, 44(2), 81–88. doi:10.1136/jmg.2006.045906 Molecular diagnosis as a strategy for differential diagnosis and at early ages of neurofibromatosis type 1 (NF1)].Gómez M, Batista O.Rev Med Chil. 2015 Oct;143(10):1320-30. doi: 10.4067/S003498872015001000011. R https://www.ncbi.nlm.nih.gov/pubmed/23656349
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Running head: NEUROFIBROMATOSIS

Neurofibromatosis
Student’s Name
Institutional Affiliation

1

NEUROFIBROMATOSIS

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Pathophysiology and Epidemiology

Neurofibromatosis is a disorder transmitted genetically, which leads to benign nerve
tumors and growth in other areas of the body. There are 2-types of neurofibromatosis;
neurofibromatosis type I (NF1) and type II (NF2). NF1 reveals itself during early childhood or at
birth, and it is characterized by many light brown spots (café-au-lait) underarms and in the groin
as well as benign tumors under the skin. Ruggieri et al. (2015) point out that NF2 might appear
during early adulthood, adolescence or childhood and it is characterized by benign nerve tumors,
which transmits sound impulse and balance signals to the brain from the i...


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