2023 At its core pathology is the study of disease Diseases occur for many reasons But some such

At its core, pathology is the study of disease. Diseases occur for many reasons. But some, such as cystic fibrosis and Parkinson’s Disease, occur because of alterations that prevent cells from functioning normally.

Understanding of signals and symptoms of alterations in cellular processes is a critical step in diagnosis and treatment of many diseases. For the Advanced Practice Registered Nurse (APRN), this understanding can also help educate patients and guide them through their treatment plans.

For this Discussion, you examine a case study and explain the disease that is suggested. You examine the symptoms reported and explain the cells that are involved and potential alterations and impacts. 

To prepare:

• By Day 1 of this week, you will be assigned to a specific scenario for this Discussion. Please see the “Course Announcements” section of the classroom for your assignment from your Instructor.

By Day 3 of Week 1

Post an explanation of the disease highlighted in the scenario you were provided. Include the following in your explanation:

• The role genetics plays in the disease.
• Why the patient is presenting with the specific symptoms described.
• The physiologic response to the stimulus presented in the scenario and why you think this response occurred.
• The cells that are involved in this process.
• How another characteristic (e.g., gender, genetics) would change your response.

I will be adding a discussion that will need a reply after. I will add 2 of them but at a different time depending on when they are availabe.

Julia’s discussion

In this scenario, it appears that a 16-year-old boy had an allergic reaction to amoxicillin. While this is unfortunate and was probably unavoidable, the provider could have reduced the risk of a medical emergency by asking a few questions. Genetics is important as familial tendency to develop allergic conditions is thought to have a genetic link. In an article published in PubMed, the authors wrote “The allergic diseases are complex phenotypes for which a strong genetic basis has been firmly established.” (Ortiz & Barnes, 2014). It does not say in the scenario, but family medical history could have identified an increased risk for this child, but the order was most appropriate given the diagnosis of Strep throat and the available history.

According to the required reading this week, the clinical manifestations of an allergic reaction are related to histamine being released into the body McCance, K. & Huether, S., 2019) . Acute allergic reactions are mediated by IgE antibodies and arises rapidly after exposure. Symptoms include hypotension, bronchospasm, angioedema (swelling), and urticaria (itching), all reported reactions in this scenario. Acute allergic reactions result from the immune system identifying a substance, in this case, amoxicillin as dangerous as a result of previous exposure (Bhattacharya, 2010). After exposure, there are antibody receptors for that substance in the body, another exposure results in the rapid release of histamine and other mediators from basophils and mast cells. Basophils and mast cells both look granulated. The granules are tiny packets of chemicals: histamine, leukotrienes, and cytokines, and other mediators. When the IgE antibodies on the surface of the basophils and the mast cells encounter an identified allergen, it triggers the cells to degranulate, releasing the contents of the granules out of the cell, where they can act in the body. The release of these vasoactive mediators results in a sudden drop in blood pressure and blood volume, flushing, itching, and bronchospasm, and potential death due to shock.

In the case that his boy had other factors such as he was female, had a family history of sensitivities or autoimmune disorders would have increased his risk of having an allergic reaction. The article “Genetics of allergic disease” went on to say, “Several reports have found that allergic diseases such as asthma, rhinitis, conjunctivitis, and dermatitis as well as allergic reactions to drugs and foods, are more common in patients with the autoimmune disease systemic lupus erythematosus.” (Ortiz & Barnes, 2014). It is important to get a full medical history and family history to avoid potential drug reactions like what was described in this scenario. While genetics alone does not guarantee a reaction, it does increase the risks and should be considered when implementing medications in a patient’s care.

References

Bhattacharya, S. (2010, January). The facts about penicillin allergy: A review. PubMed Central (PMC). Retrieved March 1, 2021, from https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3255391/

McCance, K. L. & Huether, S. E. (2019). Pathophysiology: The biologic basis for disease in adults and children (8th ed.). St. Louis, MO: Mosby/Elsevier

Ortiz, R., & Barnes, K. (2014, November 21). Genetics of allergic diseases. PubMed Central (PMC). Retrieved February 28, 2021, from https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4415518/

Jens Discussion

Discussion Response

The scenario displays a patient that has strep throat. Strep throat is caused by group A streptococci or streptococcus pyogenes (Krishnan et al., 2016). There are many factors that can play a role in regard to how severe the disease can be for the compromised individual. Genetic context is one of those factors. Many people wonder why some children are more prone to getting strep throat over others. Research has shown that a combination of genetic and immunological factors makes some individuals more suspectable (Dan et al., 2019). Kids with recurrent episodes of strep throat have a decrease of both B and follicular helper T cells, and have smaller geminal center areas (Dan et al., 2019). Thus, a poor immune response is associated with these kids. Genetic testing suggests that group A streptococci tonsillitis is more prevalent in people who have two specific gene variants in the HLA region (Dan et al., 2019). 

The patient presented with enlarged tonsils, sore throat and cervical adenopathy. These symptoms occurred from the invasion of streptococcus pyogens. The body tries to fight the illness by sending white blood cells to kill the bacteria, which causes an inflammatory response. When foreign bodies are presented to the lymphoid cells, cellular proliferation and enlargement occurs (Maini & Nagalli, 2021). Hyperemia and oedema cause the tonsils to enlarge and convert the lymphoid follicles into abscesses that then become crypts (McCance & Huether, 2019). These crypts produce exudate. A temperature of 99.6 may or may not be an immune response. If the low-grade temp is in correlation with the infection, it is the bodies way to kill the bacteria and make it harder for the pathogen to survive. 

Anaphylaxis is a severe reaction with rapid onset and is characterized by breathing or circulatory problems and is usually connected with skin and mucosal changes (Reber et al., 2017). This allergic reaction occurred when the boy took amoxicillin. This response occurred because the body failed to protect itself from the foreign body or antigen (Reber et al., 2017). The exposure to the allergen caused large quantities of Immunoglobin E (IgE) to be released. The antigen binds to IgE which causes chemicals to be released. One of these chemicals that is released from the basophils and mast cells is histamine (Reber et al., 2017). Histamine causes bronchoconstriction, increased gastric motility, vasodilation, and increased vascular permeability (Reber et al., 2017). Histamine is a defense mechanism used to try to destroy the antigen (Reber et al., 2017). Histamine is what caused the boy to have swelling of the tongue and lips, difficulty breathing and audible wheezing. 

The effector cells involved in the allergic reaction are mast cells, basophils, macrocytes/macrophages and neutrophils (Reber et al., 2017). Mast cells are key players in anaphylaxis and IgE dependent allergies (Reber et al., 2017). Mast cells emit large numbers of FcεRI, the IgE receptor, during an immune response to an allergen (Reber et al., 2017). These receptors activate the secretion of chemicals such as histamine and cysteinyl leukotrienes (Reber et al., 2017). 

Basophils can also express high levels of FcεRI (Reber et al., 2017). There is not enough evidence to show how important basophils are in the pathology of anaphylaxis, however, basophils can help diagnose or determine allergens during an allergen sensitivity test (Reber et al., 2017). IgE dependent activation of human basophils is correlated with higher basophil cell surface makers and forms the basis of “basophil activation tests” or allergen tests (Reber et al., 2017). 

Monocytes/macrophages respond to anaphylatoxins and express high levels of FcγRs (Reber et al., 2017). However, there is not enough research to show how much monocytes/macrophages are involved in the anaphylaxis process (Reber et al., 2017). Along with monocytes/macrophages, neutrophils are also an area of continuing studies. Research has recently shown that neutrophils have a T cell priming ability which enhances eosinophil migration (Reber et al., 2017). 

Perhaps if the individual in the scenario was a female, the symptoms wouldn’t have been as severe. A study was conducted on mice that showed female mice were more resistant to the group A Steptococcus bacteria (Krishnan et al., 2016). The male mice had greater concentrations of inflammatory cytokines and chemokines, and greater bacterial dissemination (Krishnan et al., 2016). 

References

Dan, J. M., Havenar-Daughton, C., Kendric, K., Al-kolla, R., Kaushik, K., Rosales, S. L., Anderson, E. L., LaRock, C. N., Vijayanand, P., Seumois, G., Layfield, D., Cutress, R. I., Ottensmeier, C. H., Linestam Arlehamn, C. S., Sette, A., Nizet, V., Bothwell, M., Brigger, M., & Crotty, S. (2019). Recurrent Group A streptococcus tonsillitis is an immune susceptibility disease involving antibody deficiency and aberrant T follicular helper cells. Science Translational Medicine. https://doi.org/10.1126/scitranslmed.eaau3776

Krishnan, K. C., Mukundan, S., Alagarsamy, J., Laturnus, D., & Kotb, M. (2016). Host genetic variation and sex differences potentiate predisposition, severity, and outcomes of Group A Streptococcus mediated necrotizing soft tissue infections. Infection and Immunity, 84(2), 416–424. https://doi.org/10.1128/IAI.01191-15

Maini, R., & Nagalli, S. (2021). Lymphadenopathy. Treasure Island, FL: StatPearls Publishing. https://www.ncbi.nlm.nih.gov/books/NBK558918/

McCance, K. L., & Huether, S. E. (2019). Pathophysiology: The biologic basis for disease in adults and children (8th ed.). St. Louis, MO: Mosby/Elsevier.

Reber, L. L., Hernandez, J. D., & Galli, S. J. (2017). The pathophysiology of anaphylaxis. Journal of Allergy and Clinical Immunology, 140(2), 335–348. https://doi.org/10.1016/j.jaci.2017.06.003