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Which genetic mutations are commonly associated with disease


Assignment task:

  • Which genetic mutations are commonly associated with the disease?
  • Why is the patient presenting with the specific symptoms described?
  • Discuss the pathophysiological mechanisms of the disease in detail.
  • What do the blood test results tell us about the disease and disease progression? Need Assignment Help?

Patient is a 16-year-old female presenting with urticaria, wheezing, voice change and one  episode of vomiting. The symptoms started shortly after eating lunch where she had a  burrito with shrimp. The patient reports no known allergies but the urticaria started  approximately 5 minutes after the starting to eat. 

The patient was given Benadryl, Solumedrol, Pepcid, an albuterol treatment and one  injection of epinephrine. Shortly after treatment, symptoms started to improve. Vitals signs  listed below: 

Initial: BP - 80/52  HR - 126  O2 - 88%  RR - 28

Post treatment:  BP - 105/62  HR - 105  O2 - 98%  RR - 18

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Other Subject: Which genetic mutations are commonly associated with disease
Reference No:- TGS03465357

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