ALTERATIONS IN CELLULAR PROCESSES NURS 6053
Walden University ALTERATIONS IN CELLULAR PROCESSES NURS 6053-Step-By-Step Guide
This guide will demonstrate how to complete the Walden University ALTERATIONS IN CELLULAR PROCESSES NURS 6053 assignment based on general principles of academic writing. Here, we will show you the A, B, Cs of completing an academic paper, irrespective of the instructions. After guiding you through what to do, the guide will leave one or two sample essays at the end to highlight the various sections discussed below.
How to Research and Prepare for ALTERATIONS IN CELLULAR PROCESSES NURS 6053
Whether one passes or fails an academic assignment such as the Walden University ALTERATIONS IN CELLULAR PROCESSES NURS 6053 depends on the preparation done beforehand. The first thing to do once you receive an assignment is to quickly skim through the requirements. Once that is done, start going through the instructions one by one to clearly understand what the instructor wants. The most important thing here is to understand the required format—whether it is APA, MLA, Chicago, etc.
After understanding the requirements of the paper, the next phase is to gather relevant materials. The first place to start the research process is the weekly resources. Go through the resources provided in the instructions to determine which ones fit the assignment. After reviewing the provided resources, use the university library to search for additional resources. After gathering sufficient and necessary resources, you are now ready to start drafting your paper.
How to Write the Introduction for ALTERATIONS IN CELLULAR PROCESSES NURS 6053
The introduction for the Walden University ALTERATIONS IN CELLULAR PROCESSES NURS 6053 is where you tell the instructor what your paper will encompass. In three to four statements, highlight the important points that will form the basis of your paper. Here, you can include statistics to show the importance of the topic you will be discussing. At the end of the introduction, write a clear purpose statement outlining what exactly will be contained in the paper. This statement will start with “The purpose of this paper…” and then proceed to outline the various sections of the instructions.
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How to Write the Body for ALTERATIONS IN CELLULAR PROCESSES NURS 6053
After the introduction, move into the main part of the ALTERATIONS IN CELLULAR PROCESSES NURS 6053 assignment, which is the body. Given that the paper you will be writing is not experimental, the way you organize the headings and subheadings of your paper is critically important. In some cases, you might have to use more subheadings to properly organize the assignment. The organization will depend on the rubric provided. Carefully examine the rubric, as it will contain all the detailed requirements of the assignment. Sometimes, the rubric will have information that the normal instructions lack.
Another important factor to consider at this point is how to do citations. In-text citations are fundamental as they support the arguments and points you make in the paper. At this point, the resources gathered at the beginning will come in handy. Integrating the ideas of the authors with your own will ensure that you produce a comprehensive paper. Also, follow the given citation format. In most cases, APA 7 is the preferred format for nursing assignments.
How to Write the Conclusion for ALTERATIONS IN CELLULAR PROCESSES NURS 6053
After completing the main sections, write the conclusion of your paper. The conclusion is a summary of the main points you made in your paper. However, you need to rewrite the points and not simply copy and paste them. By restating the points from each subheading, you will provide a nuanced overview of the assignment to the reader.
How to Format the References List for ALTERATIONS IN CELLULAR PROCESSES NURS 6053
The very last part of your paper involves listing the sources used in your paper. These sources should be listed in alphabetical order and double-spaced. Additionally, use a hanging indent for each source that appears in this list. Lastly, only the sources cited within the body of the paper should appear here.
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Explanation of the disease
Protein malnutrition is a condition resulting from inadequate protein intake or the inability to adequately absorb protein in the body (Corish & Bardon, 2019). Protein malnutrition often results from imbalanced nutritional requirements and intake (Keller, 2019). Many people who suffer from malnutrition have an associated disease or condition that connects to the complexity of the diagnosis (Keller, 2019).
The role genetics plays in the disease
The patient in the provided scenario presents with a history of malabsorption syndrome. Malabsorption can be related to several diseases in the small intestines, pancreas, liver, biliary tract, and stomach (Montoro-Huguet, Belloc, & Dominguez-Cajal, 2021). A complete history would need to be determined to understand if there is a particular genetic disease that caused this patient’s malabsorption syndrome. Malabsorption can often occur through intestinal absorption reduction, such as with autoimmune disorders like celiac disease (Montoro-Huguet et al., 2021). Celiac disease is characterized by an intolerance of gluten (Montoro-Huguet et al., 2021). Many gluten-free foods are deficient in crucial nutrients and higher in lipids, salt, and sugar (Montoro-Huguet et al., 2021). Absorption deficiency can lead to deficiencies in other vitamins, minerals, and even proteins from the lack of enriched foods (Montoro-Huguet et al., 2021). The cystic fibrosis gene can also cause some digestive organs to become obstructed, increasing the risk of malnutrition and infection (McCance & Huether, 2019, p 151). Cachexia is a syndrome that causes the most severe forms of malnutrition, which include symptoms of anorexia, weight loss, weakness, alteration in taste, and alteration in metabolizing lipids, proteins, and carbohydrates (McCance & Huether, 2019, p 367).
Why the patient is presenting with certain symptoms
The patient presented with complaints of generalized edema of extremities and of the abdomen. Due to protein malnutrition, edema can be expected due to decreased plasma oncotic pressure (McCance & Huether, 2019, p 106). Decreased plasma oncotic pressure results from the diminished production or loss of plasma albumin, which causes fluid to move into the interstitial space (McCance & Huether, 2019, p 106). Therefore, symptoms of edema within the extremities and the abdominal space could be expected with the diagnosis of protein malnutrition.
The physiologic response to stimulus presented in the scenario and why this response occurred
The patient in the scenario presents with a history of malabsorption syndrome and a lack of dentures, creating difficulties eating. The lack of dentures, especially with her history of malabsorption, can initiate poor intake and absorption of adequate protein and nutrients. Several physiological responses can occur with malnutrition. Protein malnutrition often causes loss of fat, loss of muscle, reduced metabolic rate, and growth restrictions (Dipasquale et al., 2020). Metabolic, hormonal, and glucoregulatory mechanisms also involve malnutrition-related changes (Dipasquale et al., 2020). Other aspects affected by malnutrition include bacterial overgrowth and pancreatic atrophy, increasing the risk of infection and decreasing fat absorption (Dipasquale et al., 2020). Cardiac output can be reduced, as well as bradycardia, arrhythmias, electrolyte imbalance, and hypotension (Dipasquale et al., 2020).
The cells involved in this process
Severe deficiency in nutritional status, such as protein malnutrition, can profoundly affect an individual’s immune function (McCance & Huether, 2019, p 282). The lack of nutrients can significantly affect areas within the body that are rich in T-cell and lymphoid tissues (McCance & Huether, 2019, p 282). Infections typically destroyed by an adequately functioning immune response are not eradicated and are left within the body, resulting in infection (McCance & Huether, 2019, p 282). Protein malnutrition also interferes with hematopoiesis, which decreases or stops the cell cycle regulation in hematopoietic stem cells (Hastreiter et al., 2020). When the proliferation process of epithelial cells is interrupted, often related to starvation, vitamin deficiencies, drugs, or irradiation-suppressed cell division, it can result in malnutrition (McCance & Huether, 2019, p 1301).
How another characteristic (gender, genetic, age) would change your response
Protein malnutrition is more common in older adults than younger ones (Corish & Bardon, 2019). The elderly population has shown to have an increase in risk factors not as commonly seen in the younger population, including frailty, polypharmacy, general health decline, poor appetite, loss of interest in life, depression, inadequate oral intake, and increased hospitalization (Corish & Bardon, 2019). Gender can also play a role in the development of protein malnutrition. Males have been shown to have an increased risk of malnutrition following a period of difficulties climbing stairs and a decline in functional status. In contrast, females are at increased risk when declining in self-care, cognitive impairment, and decreased social support (Corish & Bardon, 2019). Different malnutrition screening tools versus a full assessment of a patient at risk can also result in a difference in identifying individuals at risk of malnutrition (Corish & Bardon, 2019). Malnutrition tools have shown value in identifying those at risk of malnutrition, although a complete nutritional assessment is imperative to consider when diagnosing protein malnutrition (Corish & Bardon, 2019).
ALTERATIONS IN CELLULAR PROCESSES NURS 6053
ALTERATIONS IN CELLULAR PROCESSES NURS 6053
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
This paper is a case study involving a 27-year-old patient with a history of substance abuse who is found unresponsive by emergency medical services. The patient becomes responsive after being administered naloxone. The essay examines the role of genetics, reasons for patient’s symptoms, physiological response, cells involved, and influence of other characteristics.
Genetics play a role in substance use disorders. For example, opioid use disorder has large risk of being inherited in families. Genes such as OPRM1 variates and A118G also predispose individuals to substance abuse disorder. Individuals of European descent with OPRD1 genes also have high predisposition to opioid use disorder. Additional genes include KCNG2, CNHIH3, KCNC1, RGMA, and APBB2 genes (Crist et al., 2019; Liu et al., 2019).
The patient presented with symptoms such as unresponsiveness due to central nervous system depression by the opiate overdose. The patient became response following the administration of naloxone since its an opiate antagonist that reverses the depressing effects of opiates. The patient reported pain in left hip and forearm because the effects of the opiates had ben reversed, hence, perception of pain. There is also tissue necrosis that may have developed due to poor tissue perfusion from depressed central nervous system, which affected circulation and respiratory system (Parthvi et al., 2019). The patient also developed respiratory acidosis, which increased serum potassium, hence, hyperkalemia and ECG changes.
The cells involved in the patient’s symptoms include mast cells, neutrophils, and macrophages. These cells induce the induction and transition of the pain the patient experience. Adaptive immune cells such as B and T cells also initiate and resolve pain. Characteristics such as age would change my response in this case study (Machelska & Celik, 2020). For example, the elderly patients have low sensitivity to pain stimuli and potentially worse outcomes due to opiate overdose. These changes will affect the treatment interventions.
In summary, substance abuse has genetic predisposition. The patient developed the given symptoms because of the effects of opioid overdose and naloxone. Age would affect the clinical symptoms and management of opiate overdose.
References
Crist, R. C., Reiner, B. C., & Berrettini, W. H. (2019). A review of opioid addiction genetics. Current Opinion in Psychology, 27, 31–35. https://doi.org/10.1016/j.copsyc.2018.07.014
Liu, M., Jiang, Y., Wedow, R., Li, Y., Brazel, D. M., Chen, F., Datta, G., Davila-Velderrain, J., McGuire, D., Tian, C., Zhan, X., Choquet, H., Docherty, A. R., Faul, J. D., Foerster, J. R., Fritsche, L. G., Gabrielsen, M. E., Gordon, S. D., Haessler, J., … Vrieze, S. (2019). Association studies of up to 1.2 million individuals yield new insights into the genetic etiology of tobacco and alcohol use. Nature Genetics, 51(2), Article 2. https://doi.org/10.1038/s41588-018-0307-5
Machelska, H., & Celik, M. Ö. (2020). Opioid Receptors in Immune and Glial Cells—Implications for Pain Control. Frontiers in Immunology, 11. https://www.frontiersin.org/articles/10.3389/fimmu.2020.00300
Parthvi, R., Agrawal, A., Khanijo, S., Tsegaye, A., & Talwar, A. (2019). Acute Opiate Overdose: An Update on Management Strategies in Emergency Department and Critical Care Unit. American Journal of Therapeutics, 26(3), e380. https://doi.org/10.1097/MJT.0000000000000681
Alterations in Cellular Processes
This paper is a case study involving a 27-year-old patient with a history of substance abuse who is found unresponsive by emergency medical services. The patient becomes responsive after being administered naloxone. The essay examines the role of genetics, reasons for patient’s symptoms, physiological response, cells involved, and influence of other characteristics.
Genetics play a role in substance use disorders. For example, opioid use disorder has large risk of being inherited in families. Genes such as OPRM1 variates and A118G also predispose individuals to substance abuse disorder. Individuals of European descent with OPRD1 genes also have high predisposition to opioid use disorder. Additional genes include KCNG2, CNHIH3, KCNC1, RGMA, and APBB2 genes (Crist et al., 2019; Liu et al., 2019).
The patient presented with symptoms such as unresponsiveness due to central nervous system depression by the opiate overdose. The patient became response following the administration of naloxone since its an opiate antagonist that reverses the depressing effects of opiates. The patient reported pain in left hip and forearm because the effects of the opiates had ben reversed, hence, perception of pain. There is also tissue necrosis that may have developed due to poor tissue perfusion from depressed central nervous system, which affected circulation and respiratory system (Parthvi et al., 2019). The patient also developed respiratory acidosis, which increased serum potassium, hence, hyperkalemia and ECG changes.
The cells involved in the patient’s symptoms include mast cells, neutrophils, and macrophages. These cells induce the induction and transition of the pain the patient experience. Adaptive immune cells such as B and T cells also initiate and resolve pain. Characteristics such as age would change my response in this case study (Machelska & Celik, 2020). For example, the elderly patients have low sensitivity to pain stimuli and potentially worse outcomes due to opiate overdose. These changes will affect the treatment interventions.
In summary, substance abuse has genetic predisposition. The patient developed the given symptoms because of the effects of opioid overdose and naloxone. Age would affect the clinical symptoms and management of opiate overdose.
References
Crist, R. C., Reiner, B. C., & Berrettini, W. H. (2019). A review of opioid addiction genetics. Current Opinion in Psychology, 27, 31–35. https://doi.org/10.1016/j.copsyc.2018.07.014
Liu, M., Jiang, Y., Wedow, R., Li, Y., Brazel, D. M., Chen, F., Datta, G., Davila-Velderrain, J., McGuire, D., Tian, C., Zhan, X., Choquet, H., Docherty, A. R., Faul, J. D., Foerster, J. R., Fritsche, L. G., Gabrielsen, M. E., Gordon, S. D., Haessler, J., … Vrieze, S. (2019). Association studies of up to 1.2 million individuals yield new insights into the genetic etiology of tobacco and alcohol use. Nature Genetics, 51(2), Article 2. https://doi.org/10.1038/s41588-018-0307-5
Machelska, H., & Celik, M. Ö. (2020). Opioid Receptors in Immune and Glial Cells—Implications for Pain Control. Frontiers in Immunology, 11. https://www.frontiersin.org/articles/10.3389/fimmu.2020.00300
Parthvi, R., Agrawal, A., Khanijo, S., Tsegaye, A., & Talwar, A. (2019). Acute Opiate Overdose: An Update on Management Strategies in Emergency Department and Critical Care Unit. American Journal of Therapeutics, 26(3), e380. https://doi.org/10.1097/MJT.0000000000000681
I agree with you that the diagnosis of Group A Streptococcus (GAS) means that there is cellular injury by bacterial pathogens.
Cells get injured from several stimuli. Some could be from hypersensitivity to foreign agents, autoimmune deficiency, and Nutritional imbalance. Others could be through infection, where the pathogens invade and destroy cells with their toxins and together with damaging hypersensitivity reactions. It is interesting to note that cell injury or damage could be through nutritional imbalance. Cells require macronutrients like proteins, carbohydrates, and fat, and micronutrients like vitamins, minerals, and trace elements to function appropriately, when these are not available in cells, cellular injury or damage develops (McCance & Huether, 2019). Additionally, cellular damage could occur when there are too much of micronutrients in the cells, and macronutrients, cell membranes are destroyed which leads to many chronic infections and diseases. Xu et al, ( 2023) in their research showed that there is a correlation between hyperlipidemia and the development of atherosclerosis which could cause chronic diseases mediated by a variety of factors and links, in which there is always an interaction between blood and blood vessel wall.
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.
Xu, N., Ijaz, M., Shi, H., Shahbaz, M., Cai, M., Wang, P., Guo, X., & Ma, L. (2023). Screening of Active Ingredients from Wendan Decoction in Alleviating Palmitic Acid-Induced Endothelial Cell Injury. Molecules, 28(3), 1328. https://doi.org/10.3390/molecules28031328Links to an external site.
Second Response
Hello Courtney. Your analysis of the scenario is accurate and provides a good understanding of the patient’s presentation. You correctly mention that the patient could have had a genetic predisposition to substance abuse, which may have contributed to the development of substance abuse disorder. Genetic factors can influence an individual’s susceptibility to addiction and their response to drugs (Young, 2019). Certain genetic variations can affect how an individual metabolizes drugs, increasing the risk of overdose or adverse reactions. The patient’s symptoms, such as burning pain over the left hip and forearm, are likely due to tissue necrosis at the injection sites. Injection drug use can lead to local tissue damage, infections, and abscess formation (Usach et al., 2019). The complaint of burning pain suggests an inflammatory response. Additionally, the prolonged PR interval and peaked T waves on the EKG are consistent with hyperkalemia, which can occur in the context of rhabdomyolysis and acute kidney injury (AKI). Overall, your analysis demonstrates an understanding of the complex interplay between genetics, substance abuse, overdose, tissue damage, and organ dysfunction. It important to keep in mind that each patient’s case may have unique factors, and a comprehensive evaluation and individualized treatment plan are necessary in clinical practice.
References
Usach, I., Martinez, R., Festini, T., & Peris, J. E. (2019). Subcutaneous injection of drugs: literature review of factors influencing pain sensation at the injection site. Advances in therapy, 36, 2986-2996.
Young, A. I. (2019). Solving the missing heritability problem. PLoS genetics, 15(6), e1008222.
Sample Answer for ALTERATIONS IN CELLULAR PROCESSES NURS 6053
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
Sample Response for ALTERATIONS IN CELLULAR PROCESSES NURS 6053
Morgan,
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/.
Sample Answer for ALTERATIONS IN CELLULAR PROCESSES NURS 6053
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
Sample Response for ALTERATIONS IN CELLULAR PROCESSES NURS 6053
Hello Maghan,
I enjoyed your post on Cystic Fibrosis. To add to what you are saying, Cystic Fibrosis (CF) Cystic is a disease that affects multiple organs, including but not limited to the respiratory system, the digestive system, and the reproductive system (Alicandro et al., 2018). To further illustrate, according to McCance & Heuther (2019), CF is a common lethal recessive gene-disease in white. A copy of the defective gene must be inherited from both parents (cff.org,
2022). Furthermore, the gene causes defections in the transport of ions, disrupting the transport of ions that lead to a salt imbalance and thick mucus, also making breathing difficult (Bustami et al., 2018).
You did an impressive job explaining CF. Did you happen to learn more about how genetics play a role in CF? Thank you for sharing.
A. Salvador
References
Alicandro, G., Bisogno, A., Rota, M., Padoan, R., & Colombo, C. (2019). No gender differences in growth patterns in a cohort of children with cystic fibrosis born between 1986 and 1995. Clinical Nutrition, 38(4), 1782–1787.
Bustami, M. R., Abu-Qatouseh, L. F., Hussein, N. A., Aburayyan, W. S., Mallah, E. M., Khalil, R. W., & Aeafat, T. A. (2018). The Impact of the Complexity of Cystic Fibrosis in Jordanian Patients on the Spectrum of Cystic Fibrosis Transmembrane Conductance Regulator Mutations. Jordan Journal of Biological Sciences, 11(5), 483–488.
Cystic Fibrosis Foundation (CFF). (2021). Intro to CF. Available from https://www.cff.org/intro-cf
McCance, K. L., & Huether, S. E. (2019). Pathophysiology: The biologic basis for disease in adults and children (8th ed.). St. Louis, MO: Mosby/Elsevier.
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