ALTERATIONS IN CELLULAR PROCESSES NURS 6053

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).

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 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).

alterations in cellular processes nurs 6053
ALTERATIONS IN CELLULAR PROCESSES NURS 6053

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.                                        Genetics16(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 death18

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 therapy36, 2986-2996.

Young, A. I. (2019). Solving the missing heritability problem. PLoS genetics15(6), e1008222.

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