Discussion Response(Amelia): Cellular Processes and the Genetic Environment

Discussion response
Amelia
Scenario 4: A 27-year-old patient with a history of substance abuse is found unresponsive by emergency medical services (EMS) after calling the patient’s roommate. The roommate states that he does not know how long the patient has been lying there. The patient received naloxone in the field and has become responsive. He complains of burning pain over his left hip and forearm. Evaluation in the ED revealed a large amount of necrotic tissue over the greater trochanter and the forearm. EKG demonstrated prolonged PR interval and peaked T waves. Serum potassium level 6.9 mEq/L.
Genetics
The road from drug use to drug addiction is influenced by the environment and certain genetic factors predisposing individuals to addiction. Genetic risk factors for any disease, including substance abuse, can be caused by gene variants, phenotype severity, and gene-gene interactions (Volkow & Muenke, 2012). Included in the genetic risk inherited for addictive tendencies, exposure to both acute and chronic drug use can change synaptic function, neural plasticity, and gene expression in the brain’s reward center (Kim et al, 2017).
Rhabdomyolysis
The process of rapid muscle breakdown from either trauma, medications, genetic illnesses, toxin, or prolonged immobility is known as Rhabdomyolysis (Torres et al., 2015). In this patient’s case, assumptions must be made during the initial evaluation in that the patient responded to medication used to treat drug overdose, and the length of time immobile is unknown.
The process of Rhabdomyolysis starts in the plasma membrane of skeletal muscle. In cases where the likely cause of this illness is prolonged immobility, the process of Rhabdomyolysis begins with a direct injury to skeletal muscle. During this injury, hypoxia to the muscle decreases energy production in the form of ATP. This decrease in energy production impairs cellular permeability in muscle cells, disrupting the sodium-potassium pumps (Mccance & Huether, 2018). This disruption in the sodium-potassium pump then leads to an increase in sodium ions within the affected skeletal muscle cells, driving calcium that follows the sodium ions into the cells. This increase in calcium activates proteolytic enzymes, which in turn destroy the plasma membrane and release cytosolic components, including potassium and other cellular contents (Mccance & Huether, 2018).
This process of Rhabdomyolysis accounts for the necrosis of muscle breakdown found in both the forearm and greater trochanter and the increase in serum potassium levels,hich lead to prolonged PR intervals and peaked T waves (Levis, 2013).
Alternative Causes
Every illness is unique, just like the patients that experience them. Each condition has specific factors that lead an advanced practice provider to certain conclusions regarding a root cause. In this particular case study, assumptions are made initially due to the need for rapid treatment. A detailed patient history, including medical conditions and drug history, both prescription and non-prescription, may change certain factors related to the root cause of the illness. Certain medical conditions, including psychiatric and physical, put patients at risk for prolonged immobilization and increase the need for pain control due to that lack of mobility. Misjudgments in medications for pain control, combined with a prior history or genetic predisposition to substance abuse, then put patients at risk for overdose. The process of the necrosis of muscle tissue can begin with introducing toxins into the body. Whether intentionally or unintentionally, this jumpstart leads to the process of tissue death and increase in serum potassium levels and the observed EKG changes.
References
Kim, H.-D., Call, T., Magazu, S., & Ferguson, D. (2017). Drug addiction and histone code alterations. In Advances in experimental medicine and biology (pp. 127–143). Springer International Publishing. https://doi.org/10.1007/978-3-319-53889-1_7
Levis, J. (2013). Ecg diagnosis: Hyperkalemia. The Permanente Journal, 17(1), 69–69. https://doi.org/10.7812/tpp/12-088
Mccance, K. L., & Huether, S. E. (2018). Pathophysiology – e-book: The biologic basis for disease in adults and children (8th ed.). Mosby.
Torres, P. A., Helmstetter, J. A., Kaye, A. M., & Kaye, A. D. (2015). Rhabdomyolysis: pathogenesis, diagnosis, and treatment. The Ochsner journal, 15(1), 58–69.
Volkow, N. D., & Muenke, M. (2012). The genetics of addiction. Human Genetics, 131(6), 773–777. https://doi.org/10.1007/s00439-012-1173-3
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Solution
Discussion Response: Cellular Processes and the Genetic Environment
Hi Amelia, your discussion post offers an informative analysis. I like that your scenario offers significant demographic information on the patient without violating privacy expectations. The demographic information includes the age of the patient, condition at the time of analysis, chief complaint, and health assessment readings. In addition, I like that you discuss genetics and inheritance in relation to addiction. Most medical conditions and health concerns have a genetic predisposition. Besides that, I like you talk of rhabdomyolysis with a focus on rapid muscle breakdown and necrosis. Additionally, I like that you talk of alternative causes of the symptoms reported by the patient. While your discussion is information, I feel that it can be improved. Firstly, there is a need to link the discussion to the case. For instance, when talking about rhabdomyolysis, there is a need to link the condition to the patient in the scenario, showing how the symptoms and explaining any of the symptoms that do not match (Webb et al., 2016). Secondly, I feel that there is a need for a clear flow in the discussion. The material on genetics talks about addiction while the diagnosis is presented as rhabdomyolysis. There is no clear link between addiction and rhabdomyolysis. It would be more appropriate to discuss genetics in relation to rhabdomyolysis since there is no clear indication of addiction in the patient (Rastegar & Fingerhood, 2020). Thirdly, there is a need to mention specific genes. Generalizing for genes without mentioning specific genes results in a weak argument. For instance, rhabdomyolysis is associated with channelopathies, muscular dystrophies and metabolic myopathies, all genetic conditions that predispose to rhabdomyolysis (Walk, 2017). Overall, I feel that although your discussion is well presented, it could be improved by including the two mentioned points.
References
Rastegar, D., & Fingerhood, M. (Eds.) (2020). The American Society of Addiction Medicine Handbook of Addiction Medicine (2nd ed.). Oxford University Press.
Walk, D. (Ed.) (2017). Clinical Handbook of Neuromuscular Medicine. Springer.
Webb, A., Angus, D., Finfer, S., Gattioni, L., & Singer, M. (2016). Oxford Textbook of Critical Care (2nd ed.). Oxford University Press.
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