NURS 6053 Discussion Alterations in Cellular Processes

Sample Answer for NURS 6053 Discussion Alterations in Cellular Processes Included After Question

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.

RESOURCES

Be sure to review the Learning Resources before completing this activity.
Click the weekly resources link to access the resources.

WEEKLY RESOURCES

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.

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.

A Sample Answer For the Assignment: NURS 6053 Discussion Alterations in Cellular Processes

Title: NURS 6053 Discussion Alterations in Cellular Processes

NURS 6053 Discussion Alterations in Cellular Processes
NURS 6053 Discussion Alterations in Cellular Processes

Purpose Statement 

This paper is being written to explain the pathology of cystic fibrosis. I personally have a friend who has this disease and have learned from her. The topics that will be covered are, how cystic fibrosis is created at a cellular level, genetics role in cystic fibrosis, the reasoning for the symptoms that the patient presented with, the description of the cells involved in cystic fibrosis, and how other characteristics would change the child’s response to cystic fibrosis. In short what I remember from nursing school is that cystic fibrosis is a genetic disorder which is an autosomal recessive gene that is carried by both the mother and the father. The abnormality occurs in chromosome 7 which is where creates an inability to transport small molecules across the cell’s membrane, which in turn, dehydrates the cells of the epithelium and this then creates dry secretion. This is a broad overview of what this disease is, but I will go into further detail below.  

 The Role Genetics Plays in the Disease 

Genetics play an important role in this disease, according to an article published in PubMed titled Cystic fibrosis genetics: from molecular understanding to clinical application states that due to a defective epithelial cell that is defective, this cell is inherited and is an autosomal recessive gene. The genetic information that is in the cell, which is the recipe for the cell to make proteins (Cutting, 2015).  According to Pathophysiology of disease: An introduction to clinical medicine, if a person receives a cystic fibrosis transmembrane conductance regulator gene (CFTCR), or a person can receive two copies of the CFTCR gene. This copy has a mutation of the cystic fibrosis gene, furthermore these two copies of the CFTR gene have stored a mutation which is the on chromosome seven. So, when the recipe is being presented to the cell to be made, the genetic information is then stored into the deoxyribonucleic acid which is known as DNA.  This is part of the twenty-three pairs of chromosomes, but on the seventh chromosome, the cystic fibrosis recipe is stored in that chromosome. In the DNA, where the CFTCR gene recipe lives, if there is one copy of the recipe than the gene will not show up in the person but will be a carrier but if there are two copies of the recipe being stored in the chromosome than the cystic fibrosis gene than the person will have cystic fibrosis (McCance at el., 2019). 

 Why the Patient is Presenting with the Specific Symptoms Described 

The symptoms that the baby presented with were salty skin, periodically patient gets a swollen stomach, and not gaining weight normally. According to an article published Journal of Cystic Fibrosis, titled Inflammation in cystic fibrosis lung disease: Pathogenesis and therapy, the major organ systems that are made up of epithelia. The systems that are being affected in this patient are the sweat glands, liver’s bile duct, and intestines in the gastrointestinal tract. The article goes on to explain that the loss of pancreatic function leads to the patient suffering from malnutrition, and not growing normally. Therefore, the replacement of enzymes is important for this patient to be able to prevent the clogging of the cell because of the inability to breakdown an access amount key nutrient (Cutting, 2015). 

The physiologic response to the stimulus presented in the scenario and why you think this response occurred 

     After reading different sources, I was able to breakdown the pathology behind this patient’s symptoms. This disease starts with the CFTR gene protein being mutated in the chromosome seven, which there are two copies of the recipe, this mutation causes the decrease of chloride acceptance and ion being transported, then this makes the absorption of water to increase which throws off ciliary from completing the job and there is mucus that is dry, this is what causes the skin to be salty of the baby. The stomach inflammation and swelling that is being experienced, is due to the CFTR gene protein not having the right recipe present to the epithelial cell, this is causing malfunction by changing the reabsorption of the sodium, chloride and potassium in the cell, the recipe tells the cell to keep the sodium, chloride and potassium outside of the cell, this causes a back-up of outside of the cell structure and blocks the cell from absorbing the nutrients especially, proteins, fats and vitamins that are fat soluble. 

The Cells that are Involved in this Process 

The cells that are involved in this process start with the epithelial membranes which are present in the digestive tract, pancreas, airways, and reproductive area. According to an article in Apoptosis Journal, stated that cystic fibrosis is a caused by the dysfunction in the epithelial cell which leads to inflammation and an inability to create homeostasis because of the constant inflammation caused by the CFTR gene. Furthermore, the epithelial cells end up failing and create apoptosis in the epithelial cell because of the inflammation the is created in the endoplasmic reticulum (Soleti at el., 2013). 

How another characteristic (e.g., gender, genetics) would change your response 

For cystic fibrosis, it is important to understand that this would not be a disease if the parents did not carry the gene. The gene is the CFTR gene mutation, mentioned throughout this paper. According to a study done by Harvard Stem Cell Institute, where a lung cell was isolated to examine the function of the CFTR gene. It was shown in the study that if the ionocytes in the cell are not doing their job because it is expressing CFTR gene in increased levels, then the symptoms are created in the cell (Montoro at el., 2018). This occurs in the form of thick mucus and creates the response in the body that does not allow for the patient to regulate sodium, chloride, and potassium in a normal fashion. 

Conclusion 

During this journey of studying disease in depth and truly understanding how they work will help in the future of my career. I believe that if screening done at the hospitals before they leave would be beneficial. When parents are informed about the possibility of something occurring and what it means, parents will be empowered and get treatment before or if cystic fibrosis symptoms could show up. Also, encouraging parents to come to their baby checkups, will also allow for the medical staff to ask the right questions and treat the baby early, if they see symptoms. Cystic fibrosis is a challenge some patients may struggle with and it is our job as practitioners to catch things before extreme measures need to be taken. 

 

References 

 Cantin, A.M, Hartl, D, Konstan, M and Chmiel, J. (2015). Inflammation in Cystic Fibrosis Lung Disease and Therapy. Journal of                        Cystic Fibrosis. Retrieved from https://www.cysticfibrosisjournal.com/article/S1569-1993(15)00058-2/fulltext. 

 Cutting G. R. (2015). Cystic fibrosis genetics: from molecular understanding to clinical application. Nature reviews.                                        Genetics, 16(1), 45–56. https://doi.org/10.1038/nrg3849 

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

 Montoro D.T., Haber A.L., Biton M. et at. (2018) A Revised Airway Epithlial Heiracrchy Inclues CFTR-Expressing                                             Inoncytes.Nature. DOI: 10.1038/s41586-018-0393-7 

 Soleti, R., Porro, C., & Martínez, M. C. (2013). Apoptotic process in cystic fibrosis cells. Apoptosis : an  international journal on programmed cell death, 18 

A Sample Answer 2 For the Assignment: NURS 6053 Discussion Alterations in Cellular Processes

Title: NURS 6053 Discussion Alterations in Cellular Processes

 You are spot on in saying that genetics play an important role in this disease process. Genetic mutations are relative, and the symptoms the individual displays is all up to the gene’s expressivity (Miko, 2008). There are six different classes of cystic fibrosis (CF) (Lommatzsch & Aris, 2009). The individual is placed in a class based on the quantity of cystic fibrosis transmembrane regulator (CTFR) produced (Lommatzsch & Aris, 2009). This can explain how people with CF have different symptoms, with differing degrees of severity. Nevertheless, it is important for parents to undergo genetic counseling if they are aware they carry the gene. 

Resources 

 Lommatzsch, S. T., & Aris, R. (2009). Genetics of cystic fibrosis. Seminars in Respiratory and Critical Care Medicine, 30(5), 531-538. doi:10.01055/s-0029-1238911 

Miko, I. (2008). Phenotype variability: Penetrance and expressivity. Nature Education, 1(1), 137. Retrieved March 4, 2022 from https://www.nature.com/scitable/topicpage/phenotype-variability-penetrance-and-expressivity-573/.  

Reply Quote Email Author  

Morgan, I enjoyed reading you post. It was very informative and explained cystic fibrosis very well. The background story of your personal connection to CF was a great addition to your post.  

Cystic fibrosis is an autosomal recessive disease of the exocrine glands that involves multiple organ systems but primary the gastrointestinal and respiratory systems. (McCance & Huether, 2019) CF is an inherited disease that results from defective epithelial chloride ion transport (McCance & Huether, 2019) CF is diagnosed through various test, such as gene, blood and sweat test (medlineplus.gov, 2022)  

 References 

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

U.S. National Library of Medicine. (2022, February 24). Cystic fibrosis | CF | cystic fibrosis symptoms. MedlinePlus. Retrieved March 6, 2022, from https://medlineplus.gov/cysticfibrosis.html 

A Sample Answer 3 For the Assignment: NURS 6053 Discussion Alterations in Cellular Processes

Title: NURS 6053 Discussion Alterations in Cellular Processes

Cystic Fibrosis and Genetics 

 Cystic fibrosis (CF) is a genetically inherited disease of the sweat and mucus glands that primarily affects the pulmonary system and gastrointestinal (GI) tract (Mayo Clinic, n.d). Each person receives one cystic fibrosis transmembrane conductance regulator (CFTR) gene that is passed from the father and mother resulting in two total CFTR genes (CDC, n.d.). CF is a recessive disorder which means that both parents must pass the defective gene for the child to have CF (McCance & Huether, 2019). If just one parent passes the defective gene, the child will be a carrier and have the possibility of passing to their children (McCance & Huether, 2019). There is a 25% chance that future children will either have CF or not have CF and a 50% chance that they could be carriers of CF. 

Symptom Explanation 

 Patients with CF have a defective CFTR protein that is unable to transport chloride (an element in salt) to the cell surface (Cystic Fibrosis Foundation, n.d.). When salt cannot move through the cells as it normally should, higher amounts of salt are found on the skin resulting in a salty taste (Cystic Fibrosis Foundation, n.d.). Salt and water typically travel together through the body, but in CF this balance in the cells is disrupted and there is a lack of water due to the defective CFTR protein which causes thick and sticky secretions in the affected organs. The baby’s bloating is caused by these thickened secretions that can block the ducts in the pancreas and cause irregular bowel movements, pain, cramping, and even intestinal blockages (Cystic Fibrosis Foundation, n.d.). When the pancreas has obstructed ducts, it prevents the movement of pancreatic enzymes through the digestive tract which causes problems with the absorption of needed nutrients for proper growth of the baby (McCance & Huether, 2019).  

Physiologic Response to Stimulus 

 The pancreatic ducts get clogged by the thicker secretions and this causes a decrease in the digestive enzymes that are secreted by the pancreas. When there are not enough digestive enzymes to properly break down the food, there is a problem absorbing nutrients needed for proper growth such as fats, proteins, and fat-soluble vitamins such as A, D, E, and K (Cystic Fibrosis Foundation, n.d.). Incomplete digestion leads to bloating, cramping, diarrhea, vitamin deficiency, and difficulty gaining weight.  

Involved Cells 

Epithelial cells are largely responsible for ion and fluid absorption and secretion (Saint-Criq, & Gray, 2017). In patients with CFTR protein defects, there are problems with sodium, chloride, and water absorption and secretion. The chloride can not be transported correctly which causes an imbalance between the electrolytes and water and ultimately leads to thickened secretions that cause problems throughout the organs.  

 Other Characteristics 

More information is needed related to race, as Caucasians have a higher risk of developing CF, and African Americans, Asians, and Hispanics have a lower risk (Cystic Fibrosis Foundation, n.d.). Having a sibling, cousin, or other close family members also increases the risk of CF (Cystic Fibrosis Foundation, n.d.). In this scenario, it seems the older sibling may also have CF, but further testing is needed for proper diagnosis. 

 References 

 Cystic Fibrosis. (n.d.). CDC.  https://www.cdc.gov/genomics/disease/cystic_fibrosis.htm. 

 Cystic fibrosis – Symptoms and causes – Mayo Clinic. (2021).  https://www.mayoclinic.org/diseases-conditions/cystic-fibrosis/symptoms-causes/syc-20353700. 

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

 Saint-Criq, V., & Gray, M. A. (2017). Role of CFTR in epithelial physiology. Cellular and molecular life sciences: CMLS, 74(1), 93–115. https://doi.org/10.1007/s00018-016-2391-y 

A Sample Answer 4 For the Assignment: NURS 6053 Discussion Alterations in Cellular Processes

Title: NURS 6053 Discussion Alterations in Cellular Processes

A genetic variant in an immune system gene that aids the body in differentiating between our own cells and dangerous germs and viruses may be present in those who report penicillin allergies (Erdmann, 2020). Even while there is still much to learn about the precise effects that a person’s genetic makeup has on them, this illustrates the relevance and usefulness of making an effort to comprehend the larger role that the genome plays in our lives (Carter, 2021). Many people self-report having an allergic reaction to penicillin when they were a child but were never tested to see if it was a true allergy. Most of the time, these patients can still take other medications instead of penicillin. However, these medications are more costly, and the patient should be evaluated to see if penicillin would be a better choice for them.

  • Presenting Specific Symptoms

The swelling of his tongue and lips and difficulty breathing with audible wheezing result from bradykinin and histamines. These immune system molecules dilate blood vessels and are released by the body in excessive amounts. Histamine contracts the bronchial smooth muscles causing constriction, which causes wheezing and the inability to effectively breathe (McCance & Huether, 2018). It also causes vascular permeability and vasodilation increasing blood flow to the affected area.

This is a condition known as angioedema. These molecules are secreted after the mast cells are initially activated during exposure to penicillin for this patient (Reber et al., 2017).

  • The Physiologic Response to the Stimulus and why the Response Occurred

The patient in question has a type one hypersensitivity or anaphylactic reaction due to the ingestion of penicillin. Anaphylaxis is thought to result from activating mast cells, basophils via a mechanism largely recognized to entail immunoglobulin (Ig) E crosslinking and aggregation of the high-affinity IgE receptors.   Histamine, tryptase, carboxypeptidase A, and proteoglycans are the prepared mediators swiftly released by activated mast cells and basophils from secretory granules. Prostaglandins, leukotrienes, and platelet-activating factors are among the arachidonic acid metabolites produced by the downstream activation of phopholipase A2 (PLA2), which is followed by cyclooxygenases and lipoxygenases (PAF). Among other cytokines and chemokines, the inflammatory cytokine tumor necrosis factor (TNF) is released as a preformed and late-phase mediator. Many of these mediators are thought to be in charge of the pathophysiology of anaphylaxis. Histamine raises vascular permeability, heart rate, cardiac contraction, and glandular secretion in addition to stimulating vasodilation. Prostaglandin D2 is a peripheral vasodilator, pulmonary and coronary vasoconstrictor, and bronchoconstrictor. Leukotrienes cause bronchoconstriction, raise vascular permeability, and encourage remodeling of the airways.

Along with increased vascular permeability, PAF is a strong bronchoconstrictor. These overlapping and synergistic physiological effects contribute to the pathophysiology of anaphylaxis, which can present differently with generalized urticaria and angioedema, bronchospasm and other respiratory symptoms, hypotension, syncope, and other cardiovascular symptoms, as well as nausea, cramping, other gastrointestinal symptoms. Anaphylaxis may be biphasic or persistent (Peavy & Metcalfe, 2008, p. 311).

  • The Cells

    Involved in this Process.

During the sensitization stage of Type I hypersensitivity, antigen-presenting cells (APCs) delivered the allergen (PCN) to T-cells. Once the B-cells have been stimulated to make IgE antibodies, which bind to the Fc receptors on mast cells and basophils, the T-cells will signal. Histamines and basophils are then released as a result of mast cells (Stone et al., 2010).

  • How Another

    Characteristic (e.g., gender, genetics) Would Change the Response

Dayne Voelker, MD, of the Mayo Clinic School of Graduate Medical Education states in the research that he has read that women tested positive for penicillin allergy more than four times as frequently as men did. In order to determine whether there are “biomarkers, or any predictive tools that we can analyze of why women are more prone and more likely to be allergic,” Voelker stated that more research is necessary (Women May Be More Likely to Have Penicillin Allergy, 2019).

Scientists haven’t determined why women are more likely than males to experience these potentially fatal allergic reactions or anaphylaxis. According to new research, the female hormone estrogen may be crucial (Hox et al., 2015).

References

Carter, A. (2021, April 30). The importance of understanding genetic predisposition. The university of southern Maine. Retrieved February 27, 2023, from https://digitalcommons.usm.maine.edu/cgi/viewcontent.cgi?article=1201&context=thinking-matters-symposiumLinks to an external site.

Erdmann, J. (2020, November 9). Penicillin allergies may be linked to one immune system gene. Science News. Retrieved February 27, 2023, from  https://www.sciencenews.org/article/penicillin-allergies-immune-system-    Links to an external site. genetics#:~:text=People%20who%20report%20penicillin%20allergies,and%20harmful%20bacteria%20and%20viruses.Links to an external site.

Hox, V., Desai, A., Bandara, G., Gilfillan, A. M., Metcalfe, D. D., & Olivera, A. (2015). Estrogen increases the severity of anaphylaxis in female mice  through enhanced endothelial nitric oxide synthase expression and nitric oxide production. Journal of Allergy and Clinical Immunology, 135(3), 729–736.e5. Retrieved February 28, 2023, from https://doi.org/10.1016/j.jaci.2014.11.003Links to an external site.

McCance, K. L., & Huether, S. E. (2018). Pathophysiology: The biologic basis for disease in adults and children (8th ed.). Mosby.

Peavy, R. D., & Metcalfe, D. D. (2008). Understanding the mechanisms of anaphylaxis. Current Opinion in Allergy & Clinical Immunology, 8(4), 310– 315. Retrieved February 28, 2023, from https://doi.org/10.1097/aci.0b013e3283036a90Links to an external site.

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.2017.06.003Links to an external site.

Stone, K. D., Prussin, C., & Metcalfe, D. D. (2010). Ige, mast cells, basophils, and eosinophils. Journal of Allergy and Clinical Immunology, 125(2), S73–  S80. Retrieved February 28, 2023, from https://doi.org/10.1016/j.jaci.2009.11.017Links to an external site.

Women may be more likely to have penicillin allergy. (2019, November 10). Healio. Retrieved February 28, 2023, from                                                                       https://www.healio.com/news/primary-care/20191110/women-may-be-more-likely-to-have-penicillin-    allergy#:~:text=Within%20the%20cohort%2C%20women%20were,CI%2C%202.98%2D6.26).Links to an external site.