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