Week 1 Discussion
Role of Genetics
This scenario presents a 16-year-old boy with a chief complaint of sore throat is one of the most commonly diagnosed diseases with an estimated 15 million annual healthcare visits in the primary care settings (Rogers & Eastland, 2021). Rapid strep test confirms positive strep throat. The most common cause of pharyngitis is Streptococcus pyogenes also known as group A Streptococcus (GAS). The colonization, invasion, and dissemination of the microorganism often transmitted through, contact, droplet, and airborne (Rogers & Eastland, 2021). The genetic and immunologic predisposition helps to fight the repeated infection that can have a negative impact on health. A large amount of virulence factor can be producing by GSC to overcome host immunity (Chauhan et al., 2016). However, one of the studies identified M protein, a cell surface antigen that is antiphagocytic and protective in some strains where the cloning of the M protein gene also known as emm gene has led to the identification and sequencing of the genotypes to classify GAS (Khosravi et al., 2016). The emm gene tying has helped to early identification of the patient with the GAS pharyngitis identification and early treatment with appropriate antibiotics (Khosravi et al., 2016). In addition to NURS 6501 Week 1 Discussion: Alterations in Cellular Processes Sample Essay, the generic linkage IgE antigen and allergen cause hypersensitivity leading to anaphylactic shock.
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Patients’ Clinical Presentation and Physiological Response: NURS 6501 Week 1 Discussion: Alterations in Cellular Processes Sample Essay
In this scenario, the invasion of the patient first line of defense nasopharynx and oropharynx by the pathogen has resulted in an inflammatory response (Rogers & Eastland, 2021). The highly adaptive GAS
NURS 6501 Week 1 Discussion Alterations in Cellular Processes Sample Essay
pathogens maintain cellular integrity by adhering to the biological host. Microorganisms colonize the oropharyngeal mucosal epithelium of the respiratory tract (Rogers & Eastland, 2021). Signs such as fever and positive anterior and posterior adenopathy increase the number of circulating leukocytes. The swelling reddened and white exudate of the pharynx on tonsils that are enlarged to 3+ are consistent with innate defense mechanisms to get rid of the undesired pathogen. Patient innate immunity has an inflammatory response that is trying to neutralize and destroy invading bacteria trying to limit the spread and damage to the tissue (Rogers & Eastland, 2021).
Moreover, the allergic drug reaction to the medication amoxicillin caused adverse event triggering hypersensitivity. The patient sign and symptoms of swelling of tongue, difficulty breathing, and audible wheezing are consistent with the anaphylactic reaction which is medicated by sensitized mast cell, and IgE to produce antibodies resulting in vascular permeability, vasodilation, bronchoconstriction, and emigration of leukocytes to the infected area (Miguel-Rodriquez et al., 2018).
The cells involved in this process: NURS 6501 Week 1 Discussion: Alterations in Cellular Processes Sample Essay
The nasopharynx consists of pseudostratified columnar epithelium cells which are linked to trap the unwanted organisms (Rogers & Eastland, 2021). The tonsils and adenoids contain immunologic cells to attack undesired pathogens (Rogers & Eastland, 2021). The detection of the pathogen such as GAS causes a biochemical cascade that causes mast cell degeneration which activates inflammatory response (Chauhan et al., 2016). The releases histamine, production of IgE, and activates chemotactic factors that attract neutrophils, basophils, dendritic cells, monocytes, prostaglandins, leukotrienes, and platelet (Marshall et al., 2018). Moreover, the vasodilation in the endothelium of the blood vessels leads to an increase in capillary permeability that circulates platelets, leukocytes, and plasma proteins (Marshall et al., 2018).
How another characteristic (e.g., gender, genetics) would change your response
There are many factors that can contribute to the risk of acquiring an infectious disease. Among several factors age, individual-specific immunity response, stress, and nutrition can influence the way the individual reacts to the pathogens. Furthermore, the virulence factor and antimicrobial resistance mechanism of the GAS also influence the immune response in the individual (Khosravi et al., 2016). Especially children are more prone to getting strep throat due to underlying genetic and immunologic susceptibility to infections. Therefore, early detection, diagnosis, and the right treatment are essential to prevent the spread and colonization of the pathogens and preventing adverse events.
NURS 6501 Week 1 Discussion: Alterations in Cellular Processes Sample Essay References
Chauhan, S., Kashyap, N., Kanga, A., Thakur, K., Sood, A., & Chandel, L. (2016). Genetic diversity among group A Streptococcus isolated from throats of healthy and Symptomatic children. Journal of Tropical Pediatrics, 62(2), 152–157. https://doi.org/10.1093/tropej/fmv092
Khosravi, A. D., Ebrahimifard, N., Shamsizadeh, A., & Shoja, S. (2016). Isolation of Streptococcus pyogenes from children with pharyngitis and emm type analysis. Journal of the Chinese Medical Association, 79(5), 276–280. https://doi.org/10.1016/j.jcma.2016.01.002
Marshall, J. S., Warrington, R., Watson, W., & Kim, H. L. (2018). An introduction to immunology and immunopathology. Allergy, Asthma & Clinical Immunology, 14(S2). https://doi.org/10.1186/s13223-018-0278-1
Miguel-Rodriquez, A. S., Armentia, A., Martin-Armentia, S., Martin-Armentia, B., Estevan, M. C. L., & Peinado, I. I. (2018). Importance of allergic hypersensitivity to medications. International Journal of Allergy Medications, 4(2). https://doi.org/10.23937/2572-3308.1510032
Rogers, J., & Eastland, T. (2021). Understanding the most commonly billed diagnoses in primary care. The Nurse Practitioner, 46(5), 48–54. https://doi.org/10.1097/01.npr.0000742908.69893.bb
NURS 6501 Week 1 Discussion: Alterations in Cellular Processes Sample Essay Scenario
NURS 6501 Week 1 Discussion: Alterations in Cellular Processes Sample Essay A 16-year-old boy comes to clinic with chief complaint of sore throat for 3 days. Denies fever or chills. PMH negative for recurrent colds, influenza, ear infections or pneumonias. NKDA or food allergies. Physical exam reveals temp of 99.6 F, pulse 78 and regular with respirations of 18. HEENT normal with exception of reddened posterior pharynx with white exudate on tonsils that are enlarged to 3+. Positive anterior and posterior cervical adenopathy. Rapid strep test performed in office was positive. His HCP wrote a prescription for amoxicillin 500 mg po q 12 hours x 10 days disp #20. He took the first capsule when he got home and immediately complained of swelling of his tongue and lips, difficulty breathing with audible wheezing. 911 was called and he was taken to the hospital, where he received emergency treatment for his allergic reaction.
Overview of diagnoses and genetics
Streptococcus pyogenes or strep throat is an acute bacterial infection that affects the oropharynx and nasopharynx. Strep throat presents as a sore throat, pain while swallowing, and a fever. Patients may also experience a headache, nausea, vomiting, or abdominal pain. The average incubation period is 1-4 days. The highest risk of transmission occurs during the acute stage when a patient coughs or sneezes. If untreated, patients may experience an acute rheumatic fever or glomerulonephritis (Al-Dewan, Al Saadi & Ali, 2020). This patient was treated with amoxicillin, a type of penicillin. The patient subsequently had an allergic reaction to the amoxicillin. While strep throat does not have a genetic component, a penicillin allergy does. Patients who have reported penicillin allergies can have a genetic variation on an immune system gene called HLA-B. Some patient’s HLA genes have been linked to bad reactions of specific drugs. The patients are predisposed to have a higher risk of allergic drug reactions (Erdmann, 2020).
Patient presentation and physiologic response
The patient is presenting with symptoms of low-grade fever, reddened posterior pharynx with white exudate, 3+ tonsils, and enlarged cervical lymph nodes. These are symptoms of strep throat. The patient is presenting this way because he contracted bacteria through the mucus membranes and the infection invaded, multiplied, and disseminated. The patient had an unknown and underlying drug allergy to penicillin; therefore, he had an allergic reaction to penicillin. The patient had a type 1 or beginning of an anaphylactic reaction. IgE antibodies were produced in response to the medication components. These antibodies (IgE) bind to mast cells and basophils, which contain histamine granules that are released in the reaction and cause inflammation (Justiz-Vaillant & Zito, 2019). The cells involved in this process are eosinophils, mast cells, and basophils. The patient may have had a genetic predisposition to allergies as if his parents had an anaphylactic allergic response to penicillins then a provider may be cautious to prescribe penicillin as well.
Al-Dewan, H. A., Al Saadi, K. A., & Ali, H. H. M. (2020). Role of superantigen A gene on some immunological markers in the streptococcal pharyngitis patients. EurAsian Journal of Biosciences, 14(2), 7603–7612.
Erdmann, J. (2020). Penicillin allergies may be linked to one immune system gene. Science News. https://www.sciencenews.org/article/penicillin-allergies-immune-system-genetics.
Justiz-Vaillant, A. A., & Zito, P. M. (2019). Immediate hypersensitivity reactions. In Stat-Pearls. Treasure Island, FL: StatPearls Publishing. Retrieved from https://www.ncbi.nlm.nih.gov/books/NBK513315/
Scenario 1: A 16-year-old boy comes to clinic with chief complaint of sore throat for 3 days. Denies fever or chills. PMH negative for recurrent colds, influenza, ear infections or pneumonias. NKDA or food allergies. Physical exam reveals temp of 99.6 F, pulse 78 and regular with respirations of 18. HEENT normal with exception of reddened posterior pharynx with white exudate on tonsils that are enlarged to 3+. Positive anterior and posterior cervical adenopathy. Rapid strep test performed in office was positive. His HCP wrote a prescription for amoxicillin 500 mg po q 12 hours x 10 days disp #20. He took the first capsule when he got home and immediately complained of swelling of his tongue and lips, difficulty breathing with audible wheezing. 911 was called and he was taken to the hospital, where he received emergency treatment for his allergic reaction.
Post an explanation of the disease highlighted in the scenario you were provided. Include the following in your explanation: I suggest that each bullet point be a subject heading and submit in APA format. Each bullet point should reflect a subject heading followed by subsequent content reflective of primary source(s) of reference published within the last 6 years.
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.
The role genetics plays in the disease
Technology advancement has caused a tremendous change in molecular genetics, this leads to next-generation sequencing strategies that are increasingly used in the causal variants associated with allergic diseases. The pervasiveness of allergic traits in connection to family history has demonstrated a gradual increase in the risk of developing asthma as shown in many studies, AR, or AD with the presence of one or both parents with allergic disease. It is also greater than three times if allergic disease occurred in more than first-degree relative. To this day despite technological progress, family history remains one of the most reliable tools for the prognosis of allergic disease (Ortiz & Barnes, 2015). Our molecular understanding of anaphylaxis is that it is an IgE/mast cell/basophil-mediated event (Galli, 2005). There are many experimental data over the years supporting this data in defining the antibody of allergy as the immunoglobulin IgE, then the cloning of the FcεR receptors and demonstrating their presence on mast cells, along with the recognition of mast cell products as having direct vascular effects that can lead to hypotension and shock, which characterizes severe anaphylaxis (Oettgen, 2016). Also, other mast cell products may contribute to allergy and anaphylaxis, including proteoglycans, serine proteases, lipid-derived mediators, cytokines, and platelet-activating factor (PAF) (Galli, 2005).
Why the patient is presenting with the specific symptoms described
The presenting symptoms may be related to strep throat or Streptococcal Pharyngitis which is an infection of the back of the throat including the tonsils caused by group A streptococcus (GAS). Since the signs and symptoms of streptococcal pharyngitis and non-streptococcal pharyngitis overlap broadly, the best approach is a laboratory test to determine whether group A streptococci are present in the pharynx (Oliver et al., 2018). It may be either a throat culture or a rapid antigen detection test (RADT) that can detect the presence of group A streptococcal carbohydrate on a throat swab. For a patient having the signs and symptoms of acute pharyngitis, a positive throat culture or RADT can establish the diagnosis of strep throat. However, the RADT being less sensitive compared to throat cultures, a negative RADT should be confirmed with the results of a throat culture. Signs of an Anaphylaxis Shock appear immediately after the patient is given an oral dose of Amoxicillin 500mg (Peter, 1992).
The physiologic response to the stimulus presented in the scenario and why you think this response occurred
After the patient took the prescribed Amoxicillin (Penicillin) 500 mg, he started displaying signs and symptoms of Anaphylaxis Shock. Adverse drug reactions are the leading cause of medical injury in hospitalized patients in the United States. The number of patients affected is four times higher compared to the number of people killed in motor vehicle accidents every year (Craig & Mende, 2019). Antibiotics, where penicillin comprise the largest class in this group, account for about 15% to 30% of the drug expenditure in the world (Blanca, 1995). So, it is not a surprise that antibiotics often trigger allergic and anaphylactic reactions. The incidence of penicillin reactions is presumed to be between 1% and 10% as there is no exact estimate to be reached due to subjective and non-standardized criteria (Craig & Mende, 1999). Those who have taken antibiotics without problems have less than a 1% risk of an allergic incident when rechallenged (Weiss & Adkinson, 1988). Penicillin’s adverse reactions can be up to 10% and are life-threatening because of bronchospasm, laryngeal edema, or hypotension. Two percent to ten percent of these incidents proved to be fatal. Also, it was found out that patients with no history of allergy suffer the most serious reactions (Boguniewicz, 1995).
The cells that are involved in the process
After the patient took the prescribed Amoxicillin 500mg orally, he started to have an inflammatory response to it. The immediate symptoms show an Anaphylaxis shock. Systemic anaphylaxis is generally recognized as a severe allergic reaction caused by IgE-mediated activation of mast cells, leading to a massive release of vasoactive mediators that induce acute hypotension and shock. Anaphylaxis is an acute, multisystem, severe type I hypersensitivity reaction that develops in minutes to hours following antigen exposure (Galli, 2005). If the allergy is mild, the results are wheezing, rashes, and some gastrointestinal signs like bloating or cramping. If it is severe, the patient develops bronchoconstriction with hypoventilation, cardiac dysrhythmias, systemic vasodilation, and central nervous system abnormalities. Anaphylaxis most often occurs in patients in response to some medications like amoxicillin 500 mg in this case. Others are those with severe allergies to specific foods like shellfish, nuts, and milk products and to insect stings, specifically the Hymenoptera venom. In the US, more than 1,500 deaths per year are attributed to acute hypersensitivity reactions (Neugut et al., 2001).
How another characteristic (e.g., gender, genetics) would change your response.
Back in the day, evidence-based practice has focused on the work of Gregor Mendel where disease interventions were based on the expression of a single locus disorder with simple genetically attributed causes (Frazier et al., 2015). Now, the recent advances in the field of etiology for the genetic composition of disease expression and evolution have incorporated relationships between genetic health, genetic risk, and intervention. Diseases are now studied and treated involving multifactorial causes. Complex diseases which include extreme individual variation are now a public health concern. Therefore, there are genetic components with vulnerable alleles that if combined with the right triggers may start or aggravate a disease (Frazier et al., 2015). In conclusion, genetic disease expression and evolution are multifaceted. It can be affected by the lifestyle of the individual which includes food preferences, occupation, choice of residence, and the personal behaviors that said individual chooses to engage in (Frazier et al., 2015).
Blanca, M. (1995). Allergic reactions to penicillins. A changing world?. Allergy, 50(10), 777-782.
Boguniewicz, M. (1995). Adverse reactions to antibiotics: is the patient really allergic?. Drug safety, 13(5), 273-280.
Craig, T. J., & Mende, C. (1999). Common allergic and allergic-like reactions to medications: when the cure becomes the curse. Postgraduate medicine, 105(3), 173-181.
Frazier, L., Menininger, J., Lea, D., Boerwinkle, E. (2015). Genetic discoveries and nursing implications for complex disease prevention and management. Journal of Professional Nursing, 20(4), 222-229.
Galli, S. J. (2005). Pathogenesis and management of anaphylaxis: current status and future challenges. Journal of Allergy and Clinical Immunology, 115(3), 571.
Neugut, A. I., Ghatak, A. T., & Miller, R. L. (2001). Anaphylaxis in the United States: an investigation into its epidemiology. Archives of internal medicine, 161(1), 15-21.
Oettgen, H. C. (2016). Fifty years later: emerging functions of IgE antibodies in host defense, immune regulation, and allergic diseases. Journal of Allergy and Clinical Immunology, 137(6), 1631-1645.
Oliver, J., Wadu, E. M., Pierse, N., Moreland, N. J., Williamson, D. A., & Baker, M. G. (2018). Group A Streptococcus pharyngitis and pharyngeal carriage: a meta-analysis. PLoS neglected tropical diseases, 12(3), e0006335.
Ortiz, R. A., & Barnes, K. C. (2015). Genetics of allergic diseases. Immunology and Allergy Clinics, 35(1), 19-44.
Peter, G. (1992). Streptococcal pharyngitis: current therapy and criteria for evaluation of new agents. Clinical infectious diseases, 14(Supplement_2), S218-S223.
Weiss, M. E., & Adkinson, N. F. (1988). Immediate hypersensitivity reactions to penicillin and related antibiotics. Clinical & Experimental Allergy, 18(6), 515-540.
Scenario 2: A mother brings her 6-month-old daughter to the HCP for evaluation of possible colic. The mother says the baby has had many episodes of crying after eating and, despite having a good appetite, is not gaining weight. The mother says the baby’s belly “gets all swollen sometimes.” The mother says the baby tastes “salty” when the mother kisses the baby. Further workup reveals a diagnosis of cystic fibrosis. The mother relates that her 23-month-old son has had multiple episodes of “chest congestion” and was hospitalized once for pneumonia. The mother wants to know what cystic fibrosis is, and she also wants to know if she should have any more children.
As mentioned in this scenario, the work up on the 6-month-old little girl revealed a diagnosis of cystic fibrosis. Cystic fibrosis (CF) is an inherited genetic disorder that causes severe damage to the lungs, digestive system, and other organs in the body (“Cystic fibrosis – Symptoms, and causes,” 2020).
CF affects about 35,000 people in the United States (“Cystic fibrosis,” 2020). CF is prevalent in 1 in every 2500 Caucasian live births and is caused by a mutation in the cystic fibrosis transmembrane conductance regulator (CFTR) gene (Kelsey et al., 2019, p. xx). CFTR is a large protein of more than 1400 amino acids separated into 2 homologous halves, each containing 6 membrane-spanning segments and a nucleotide-binding domain (Kelsey et al., 2019, p. xx). This protein functions as a channel across the membrane of cells that produce mucus, sweat, saliva, tears, and digestive enzymes. The channel transports negatively charged particles called chloride ions into and out of cells. The transport of chloride ions helps control the movement of water in tissues, which is necessary to produce thin, freely flowing mucus (“CFTR gene: MedlinePlus genetics,” n.d.). For those with CF, salt cannot move as it normally does through the cells that line the sweat duct (Editorial Team, 2019). Salt is then excreted in the sweat and explains why the baby tasted salty when her mother kissed her.
Every person has two copies of the cystic fibrosis transmembrane conductance regulator (CFTR) gene. A person must inherit two copies of the CFTR gene that contain mutations — one copy from each parent — to have cystic fibrosis (“CF genetics: The basics,” n.d.). A person must have a mutation in both copies of the CFTR gene to have CF. If someone has a mutation in only one copy of the CFTR gene and the other copy is normal, he or she does not have CF and is a CF carrier. About 10 million people in the United States are CF carriers. CF carriers can pass their copy of the CFTR gene mutation to their children. Each time two CF carriers have a child together, the chances are 25 percent (1 in 4) the child will have CF, 50 percent (1 in 2) the child will be a carrier but will not have CF, 25 percent (1 in 4) the child will not be a carrier of the gene and will not have CF (“CF genetics: The basics,” n.d.). So, I would discuss with the mother that if she chooses to have another child with someone who also has the CF gene, there is a 1-in-4 (25%) chance that the baby will CF.
Cystic fibrosis affects the intestines, pancreas, and liver. Because the digestive fluids are thicker in those with CF, this can block the intestines and cause constipation and abdominal discomfort. This can also lead to an obstruction. Some affected babies have meconium ileus, a blockage of the intestine that occurs shortly after birth (“Cystic fibrosis: MedlinePlus genetics,” n.d.). When ducts in the liver cannot drain, the bile ducts can become blocked, which will lead to inflammation of the liver and, in this case, swelling of the baby’s abdomen. When the thick mucus blocks the ducts within the pancreas, the enzymes in food are not able to be broken down to reach the small intestines to break down food and absorb nutrients leading to an inability to gain weight (“cause and impact of cystic fibrosis (CF),” n.d.).
The Her mother mentioned that her 23-month-old son has had multiple chest
congestion episodes and was hospitalized once for pneumonia. Most people with CF are diagnosed by age 2 thanks to newborn screening tests (“Role of genetics in CF,” n.d.). It is my guess that he may have allergies, asthma or he may go to daycare where he is exposed to other children with colds that contribute to these episodes and hospitalization.
CF genetics: The basics. (n.d.). Cystic Fibrosis Foundation | CF Foundation. https://www.cff.org/What-is-CF/Genetics/CF-Genetics-The-Basics/
Cystic fibrosis – symptoms, and causes. (2020, March 14). Mayo Clinic. https://www.mayoclinic.org/diseases-conditions/cystic-fibrosis/symptoms-causes/syc-20353700
Cystic fibrosis. (2020, June 29). https://www.cdc.gov/genomics/disease/cystic_fibrosis.htm
Cystic fibrosis: MedlinePlus genetics. (n.d.). MedlinePlus – Health Information from the National Library of Medicine. https://medlineplus.gov/genetics/condition/cystic-fibrosis/
Editorial Team. (2019, August 16). Salty skin and sweat. Cystic-Fibrosis.com. https://cystic-fibrosis.com/symptoms/salty-skin
Kelsey, R., Manderson Koivula, F. N., McClenaghan, N. H., & Kelly, C. (2019). Cystic fibrosis-related diabetes: Pathophysiology and therapeutic challenges. Clinical Medicine Insights: Endocrinology and Diabetes, 12, 117955141985177. https://doi.org/10.1177/1179551419851770
Role of genetics in CF. (n.d.). Cystic Fibrosis Foundation | CF Foundation. https://www.cff.org/What-is-CF/Role-of-Genetics-in-CF/
The cause and impact of cystic fibrosis (CF). (n.d.). CFSource. https://www.cfsource.com/understanding-the-impact?gclid=03f509e1bb3716beb8b869de7a6b3f2b&gclsrc=3p.ds&&Specific+Content%5BMULTI-IM/BO%5D+pancreas%2Bpancreas+%2Bcystic+%2Bfibrosis&msclkid=03f509e1bb3716beb8b869de7a6b3f2b&utm_source=bing&utm_medium=cpc&utm_campaign=Specific%20Content&utm_term=%2Bpancreas%20%2Bcystic%20%2Bfibrosis&utm_content=%5BMULTI-IM%2FBO%5D%20pancreas#digestive-system-impact
What is cystic fibrosis? 9 symptoms to be aware of. (2021, January 4). Entirely Health. https://entirelyhealth.com/conditions/cystic-fibrosis/what-is-cystic-fibrosis-9-symptoms-to-be-aware-of/