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The Role of Genetics Plays in the disease
Usually, it is mainly kids who are susceptible to strep throat. But it is known that if strep throat is recurrent in one family, it can be genetic. The specialized sites the specific group focuses on are the germinal center, which is in the tonsils and lymph nodes. The B cells pair up with a type of T cell called the follicular helper T also known as the TFH cell. This cell is supposed to help the B cell produce efficient antibodies. With recurrent strep A, the germinal centers seen in children’s tonsils with strep contain fewer B and TFH cells (La Jolla Institute for Immunology, 2019).
Presenting Specific Symptoms
These alterations are normal responses to the cells in the body because it presents the signs and symptoms of the body. Strep A is a gram-positive that grows in chains (Ashurst, 2022). With Strep A, the bacteria in the body cause many symptoms; the main one is throat inflammation (Ashurst, 2022). Which also comes with having a fever, swollen glands, trouble swallowing, white spots, and many more. The symptoms occurring in the patient after administering the first capsule of amoxicillin 500 mg result from allergic reactions to antibiotics. With all the symptoms listed that happened, we can conclude that this 16-year-old is allergic to amoxicillin and did not know.
The Physiologic Response to the Stimulus and why the Response Occurred
The physiologic response is shown by the patient presenting except a reddened posterior pharynx with white exudate on tonsils that are enlarged to 3+. It is also observed that positive anterior and posterior cervical adenopathy is present. The 16year old also showed signs of an allergic reaction which led to swelling, bronchoconstriction, and vasodilation. The response led to vasodilation which increases capillary permeability, causing inflammation which led to trouble breathing and wheezing, which he needed to be rushed to the hospital. Once you are positive, the body will start to attack and create a defense mechanism. “Thus, human immune responses against S. pyogenes consist of a robust Th1 cellular memory response in combination with IgG1/IgG3-dominated humoral immunity that increases with age”. (Mortensen et al., 2015). Since
The Cells Involved in this Process.
Strep A, as said before, is most common in children, but adults can get it too. “Cellular mediators of innate immunity used during host defense against GAS include epithelial cells, neutrophils, macrophages, and dendritic cells (DCs), which are reported to secrete several soluble inflammatory mediators, such as antimicrobial peptides (AMPs); eicosanoids, including PGE2 and leukotriene B4 (LTB4) chemokines; and proinflammatory cytokines” (Amelia et al., 2018). There can be numerous inflammatory complications that are associated with strep that can lead to chronic diseases in patients.
How Another Characteristic (e.g., gender, genetics) Would Change the Response
Since strep A occurs more in children, age would change the response because kids are more likely to get this than adults. “GAS is the most common bacterial cause of pharyngitis in children and adolescents, with a peak incidence in winter and early spring. A recent meta-analysis showed that the prevalence of GAS pharyngitis in those under 18 years old who presented to an outpatient center for treatment for a sore throat was 37%, and for children younger than 5, it was 24%” (Ashurst, 2022). If you get it as an adult, you usually see it before the age of, 40and then it declines.
Amelia T Soderholm, Timothy C Barnett, Matthew J Sweet, Mark J Walker, Group A streptococcal pharyngitis: Immune responses involved in bacterial clearance and GAS-associated immunopathologies, Journal of Leukocyte Biology, Volume 103, Issue 2, February 2018, Pages 193–213, https://doi.org/10.1189/jlb.4MR0617-227RRLinks to an external site.
Ashurst JV, Edgerley-Gibb L. Streptococcal Pharyngitis. [Updated 2022 May 8]. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2022 Jan-. Available from: https://www.ncbi.nlm.nih.gov/books/NBK525997/Links to an external site.
McCance, K. L. & Huether, S. E. (2019). Pathophysiology: The biologic basis for disease in adults and children (8th ed.). St. Louis, MO: Mosby/Elsevier
Mortensen, R., Nissen, T. N., Blauenfeldt, T., Christensen, J. P., Andersen, P., & Dietrich, J. (2015). Adaptive Immunity against Streptococcus pyogenes in Adults Involves Increased IFN-γ and IgG3 Responses Compared with Children. Journal of immunology (Baltimore, Md.: 1950), 195(4), 1657–1664. https://doi.org/10.4049/jimmunol.1500804
Muro S. Alterations in Cellular Processes Involving Vesicular Trafficking and Implications in Drug Delivery. Biomimetics (Basel). 2018 Jul 24;3(3):19. doi: 10.3390/biomimetics3030019. PMID: 31105241; PMCID: PMC6352689.
Strep throat. La Jolla Institute for Immunology. (2019, February 6). Retrieved March 2, 2023, from https://www.lji.org/diseases/strep-throat/#:~:text=And%2C%20the%20germinal%20centers%20seen,families%2C%20suggesting%20a%20genetic%20component
NURS 6501 Discuss Alterations in Cellular Processes
NURS 6501 Discuss Alterations in Cellular Processes
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.
- 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.
Read a selection of your colleagues’ responses.
By Day 6 of Week 1
Respond to at least two of your colleagues on 2 different days and respectfully agree or disagree with your colleague’s assessment and explain your reasoning. In your explanation, include why their explanations make physiological sense or why they do not
Note: For this Discussion, you are required to complete your initial post before you will be able to view and respond to your colleagues’ postings. Begin by clicking on the “Post to Discussion Question” link and then select “Create Thread” to complete your initial post. Remember, once you click on Submit, you cannot delete or edit your own posts, and you cannot post anonymously. Please check your post carefully before clicking on Submit!
Submission and Grading Information
To access your rubric:
Week 1 Discussion Rubric
Post by Day 3 of Week 1 and Respond by Day 6 of Week 1
To Participate in this Discussion:
Week 1 Discussion
Discussion: Alterations in Cellular Processes
Main Discussion Post: Week One
In this week’s particular scenario, a 16-year-old boy with an unremarkable history and no allergies is diagnosed with streptococcal pharyngitis after a proper physical examination and a rapid strep test is performed. Due to the patient’s lack of allergies, he is given an amoxicillin 500 mg to take every 12 hours for 10 days. He takes his first dose upon arriving home and develops an immediate response of swelling to his tongue and lips and difficulty breathing. He receives emergency treatment for his reaction after 911 is notified. The purpose of this discussion is to explain the highlighted disease in this scenario.
The Role of Genetics in the Disease
It can be deduced from the scenario that the 16-year-old boy had an anaphylactic reaction to the oral amoxicillin, an aminopenicillin. Having been in use since the 1970s, they are recognized as the most common cause of drug-induced delayed rashes, drug viral interactions, and infrequently, true IgE-mediated reactions (Blumenthal et al., 2019). The literature surrounding genetics and allergic reactions is sparse, but what can be found indicates that there is no strong connection between the two. The only significant information relative to this details that patients of self-determined European ancestry report more IgE-mediated hypersensitivity reactions, with the frequency of documented drug allergy being higher in adult women of self-reported European ancestry (Blumenthal et al., 2019). Female predominance has been stable across several studies relative to antibiotic allergies. No sex effect has been demonstrated in children (Blumenthal et al., 2019). In other words, I have deduced that genetics are not responsible for the amoxicillin reaction exhibited by the boy in the scenario.
Patient Presentation, Symptoms, and Physiological Response
As mentioned previously, the patient immediately developed swelling of the tongue and lips, as well as difficulty breathing, after his initial dose of amoxicillin. Physiologically speaking, angioedema results in inflammation and increased vascular permeability (Pier & Bingemann, 2020). Angioedema can be histamine-mediated or non-histamine-mediated. In the instance of the aforementioned scenario, the patient’s presentation is consistent with histamine-mediated angioedema (Kanani et al., 2018). This type can be allergic, pseudoallergic, or idiopathic. With anaphylaxis, the process is essentially the same, but also includes bronchospasm (Pier & Bingemann, 2020). As with hypersensitivity reactions, the immune system responds in an exaggerated and inappropriate manner towards an antigen or allergen (Justiz-Vaillant & Zito, 2019); in this case, it is the amoxicillin. According to Justiz-Vaillant and Zito (2019), the cause of the hypersensitive reaction is unknown, but may be indicative of lifestyle changes, a lack of breastfeeding, and air pollution.
The Cells Involved in the Process
In type I hypersensitivity reactions, antibiotic-specific IgE in this case, binds to Fc-epsilon-RI receptors that are present on mast cells and basophils (Maker et al., 2019). Once this is done, histamine is triggered and released, along with leukotrienes and other mediators, to cause vasodilation and increased capillary permeability. Any future antibiotic exposure leads to mast cell and basophil degranulation (Maker et al., 2019). In the instance of true anaphylaxis to amoxicillin, the patient is to be directed to avoid all penicillins and beta-lactams except aztreonam until further testing can be done (cite Penicillin allergy). It is also recommended to desensitize urgently if necessary or order immediate skin-testing.
Regarding characteristics that would change my response to the scenario, I mentioned previously that genetic studies were more available regarding adult females. In that case, I would be more inclined to investigate the patient’s genetic history by obtaining lab values where necessary. However, the treatment plan would essentially remain the same initially, with treating the immediate problem, followed by skin-testing. I would venture to say that the results of the genetic testing could easily sway the direction of future treatment, but desensitization would still be a likely route.
NURS 6501 Discuss Alterations in Cellular Processes References
Blumenthal, K. G., Peter, J. G., Trubiano, J. A., & Phillips, E. J. (2019). Antibiotic allergy. The Lancet, 393(10167), 183–198. https://doi.org/10.1016/s0140-6736(18)32218-9
Pier, J., & Bingemann, T. A. (2020). Urticaria, angioedema, and anaphylaxis. Pediatr Rev, 41, 283-92.
Kanani, A., Betschel, S. D., & Warrington, R. (2018). Urticaria and angioedema. Allergy, Asthma & Clinical Immunology, 14(S2). https://doi.org/10.1186/s13223-018-0288-z
Justiz-Vaillant, A. A., & Zito, P. M. (2019). Immediate hypersensitivity reactions. In StatPearls. Treasure Island, FL: StatPearls Publishing. Retrieved from https://www.ncbi.nlm.nih.gov/books/NBK513315/
Maker, J. H., Stroup, C. M., Huang, V., & James, S. F. (2019). Antibiotic Hypersensitivity Mechanisms. Pharmacy, 7(3), 122. https://doi.org/10.3390/pharmacy7030122
Alterations in Cellular Processes
The role genetics play in the condition
In the case study of a 27-year-old with a substance use history, the suggested disease is Rhabdomyolysis. The condition involves damaged muscle tissues that release electrolytes and proteins into the blood. These substances are fatal to the heart and kidneys. Drug use impairs Adenosine Trisphosphate (ATP) production and utilization, leading to skeletal muscle impairment. Genetics is a predisposing factor to Rhabomyolysis (Rawson et al., 2018). For example, inherited disorders such as Duchenne’s muscular dystrophy increase the risk of the condition. In this case, however, drug use had more role in the Rhabomyolysis than genetics.
Why patient is presenting with the specific symptoms described
The patient had an opioid overdose leading to unresponsiveness. Additionally, opioid overdose causes respiratory depression, which slows breathing. Naloxone was administered as an antagonist to reverse the effects of opioid overdose. The patient also has symptoms of necrosis on the trochanter left hip and forearm. These could have resulted from the physical fall when the patient was unconscious. Additionally, the muscles could be managed because of Rhabdomyolysis.
The patient experienced reduced blood supply to the forearm and trochanter, which affected ATP production. Inefficient ATP increases intracellular calcium causing potassium exchange and a rise in serum K+ levels (McCance et al., 2019). Consequently, in the presence of Rhabomoyolysis, sodium and calcium malfunctions, impairing the exchange. The resultant effect is hypercalcemia and hypokalemia within the cell and hypocalcemia and hyperkalemia in the ECF (Rafique et al., 2020). The peaked T-waves and prolonged PR intervals occur from the continued rise of potassium levels.
The cells involved in this process
Muscle cells are involved in this physiological response
How another characteristic would change my response
Gender and genetics do not influence the conditions described. Hence, my response would remain unchanged.
NURS 6501 Discuss Alterations in Cellular Processes References
McCance, K. L., Huether, S. E., Brashers, V. L., & Rote, N. S. (2019). Pathophysiology: the biologic basis for disease in adults and children (8th ed.). Elsevier.
Rawson ES, Clarkson PM, Tarnopolsky MA. (2018) Perspectives on Exertional Rhabdomyolysis. Sports Med, 47(Suppl 1):33-49. https://doi.10.1007/s40279-017-0689-z.
Rafique, Z., Aceves, J., Espina, I., Peacock, F., Sheikh-Hamad, D., & Kuo, D. (2020). Can physicians detect hyperkalemiabased on the electrocardiogram? The American Journal of Emergency Medicine, 38(1), 105–108. https://doi.org/10.1016/j.ajem.2019.04.036
, it is true that cells are the basic structural components of the body and are specialized to conduct different functions in the body. The central dogma also illustrates the pivotal role of genes in dictating the specialization of cells and subsequent events. Disease can alter the nature of cells thereby interfering with the normal cell functions. I find your case analysis quite intriguing, there are many patients who complain of sore throat that is related to allergic conditions and your analysis through genetic involvement is informative (Centers for Disease Control and Prevention,2021).
Group A streptococcus pharyngitis among children and adolescents is common and the identification of the genes associated with the common occurrence provides an avenue for solving the menace. Hypersensitivity relation to genetic composition also provides a better understanding of the recurrence of such cases (McCance & Huether, 2019). I also think that the bod defense system is triggered by recognition of the pathogen and the process of acting against the identified antigen leads to the symptoms, which include inflammation that would be felt as sore throat.
I agree hat the physiological processes upon identification of the antigen includes a variety of cells mediators that take part in the inflammatory pathway. These processes cause heat, swelling and redness. The patient characteristics that define different responses include age as age relates to immunity. Children are more susceptible to some diseases as compared to adults. Elderly people are also prone to some diseases that are not so common among young adults. Allergy to drugs also links to age as the allergy increases with age (Soderholm et al., 2018). I concur with you that severe allergic reaction would definitely be a concern
NURS 6501 Discuss Alterations in Cellular Processes References
Soderholm, A. T., Barnett, T. C., Sweet, M. J., & Walker, M. J. (2018). Group A streptococcal
pharyngitis: Immune responses involved in bacterial clearance and GAS‐associated immunopathology. Journal of leukocyte biology, 103(2), 193-213.
McCance, K. L. & Huether, S. E. (2019). Pathophysiology: The biologic basis for disease in
adults and children (8th ed.). Mosby/Elsevier.
Centers for Disease Control and Prevention. (2021, November 23). Pharyngitis (strep throat): Information for clinicians. Retrieved March 1, 2022, from https://www.cdc.gov/groupastrep/diseases-hcp/strep-throat.html
NURS 6501 Discuss Alterations in Cellular Processes Grading Rubric Guidelines
Demonstrates achievement of scholarly inquiry for professional and academic decisions.
|Application of Course Knowledge –
Demonstrate the ability to analyze, synthesize, and/or apply principles and concepts learned in the course lesson and outside readings and relate them to real-life professional situations
Replies to each graded thread topic posted by the course instructor, by Wednesday, 11:59 p.m. MT, of each week, and posts a minimum of two times in each graded thread, on separate days.
(5 points possible per graded thread)
Summarizes what was learned from the lesson, readings, and other student posts for the week.
|Minus 1 Point||Minus 2 Point||Minus 3 Point||Minus 4 Point||Minus 5 Point|
|Grammar, Syntax, APA
Note: if there are only a few errors in these criteria, please note this for the student in as an area for improvement. If the student does not make the needed corrections in upcoming weeks, then points should be deducted.
Points deducted for improper grammar, syntax and APA style of writing.
The source of information is the APA Manual 6th Edition
|0 points lost||-5 points lost|
|Total Participation Requirements
per discussion thread
|The student answers the threaded discussion question or topic on one day and posts a second response on another day.||The student does not meet the minimum requirement of two postings on two different days|
|Early Participation Requirement
per discussion thread
|The student must provide a substantive answer to the graded discussion question(s) or topic(s), posted by the course instructor (not a response to a peer), by Wednesday, 11:59 p.m. MT of each week.||The student does not meet the requirement of a substantive response to the stated question or topic by Wednesday at 11:59 pm MT.|