Alterations in Cellular Processes NURS 6501 Discussion

Alterations in Cellular Processes NURS 6501 Discussion

Alterations in Cellular Processes NURS 6501 Discussion

Week 1

I evaluated a situation in which a pediatric patient was diagnosed with cystic fibrosis. The 6-month-old was noted as having belly edema following feedings, slow weight gain, and salty skin. Additionally, the scenario included information on a sibling’s history of respiratory difficulties and hospitalizations.

Genetics

Cystic fibrosis is genuinely a hereditary disease that manifests only when both parents are carriers. Cystic fibrosis is an autosomal recessive disease that requires each parent to inherit two mutant transmembrane conductance regulator or (CFTR) delta F508 genes. Miller et al. This expression indicates that both parents are heterozygous for cystic fibrosis and that their offspring have a 25% probability of acquiring the condition. Consanguinity or offspring from related individuals is frequently a role in recessive illnesses. 2020 (Huether & McCance) Interestingly, this infant’s parents may be related or may have shared a parent who was a carrier.

Symptoms

The patient appears with stomach pain, distention, and a history of inadequate weight gain. The infant’s digestive tract and pancreatic ducts were most likely clogged with thick mucus. According to Afloarei (2020), mucus buildup in the pancreas limits the entry of digestive enzymes into the digestive tract and inhibits fat digestion. This would account for the patient’s lack of weight gain. According to Yap et al. (2014), 20% of individuals with cystic fibrosis present with a newborn intestinal blockage caused by meconium bowel obstructions or volvulus-induced ischemia. This meconium may have moved slowly through the infant’s bowels until it encountered a twist or loop. A meconium bowel blockage is quite harmful. According to Afloarei (2020), this sort of bowel obstruction may result in intestinal perforation and septic shock. I would recommend immediate consultation with a surgeon or other emergency care. Cellular Processes Modifications Discussion of NURS 6501

The physiologic response

The response noted by the mother was directly related to the stimulus of feedings. The infant’s reaction to ingesting the food caused the cells within the pancreas to produce digestive enzymes. The enzymes are blocked from entering the infant’s digestive tract, and the enzymes react with the cells of the pancreas, causing inflammation and pain. (Afloarei, 2020) Additionally, Afloarei (2020) relates the lack of enzymes entering the digestive tract leads to absorption issues and poor weight gain. This poor child is practically starving and experiencing excruciating pain when it attempts to remedy its hunger.

Alterations in Cellular Processes NURS 6501 Discussion
Alterations in Cellular Processes NURS 6501 Discussion

The cells

The cells involved with this disease are present primarily on the skin, digestive tract, and respiratory tract. This chloride and bicarbonate channel within these epithelial cells’ cell membranes is not functional (Miller et al., 2019). The cells are then incapable of moving chloride outside the cell membrane. Afloarei (2020) noted that the chloride’s transport, outside the cell, usually is responsible for thinning secretions within these bodily systems, and its absence leads to thick tenacious secretions. The secretions can then lead to obstructions that end up damaging the organ systems over time.

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Other chacteristics

Both parents of the infant definitely would benefit from education on cystic fibrosis. I would initiate education on the basics of the

disease and refer her to local support groups. The mother inquired about potentially having additional children. I would use the illustration of the punnet’s square to illustrate the potential for disease transmission. Huether and McCance. (2020) stated average, 25% of the carriers’ offspring will be affected, 50% will be carriers, and 25% will be unaffected. I would do my best to explain the future medical experiences that are yet to come and stress the potential difficulties. This topic would be a difficult subject to approach, as personal opinions would be hard to exclude. Alterations in Cellular Processes NURS 6501 Discussion

Alterations in Cellular Processes NURS 6501 Discussion References

Afloarei, D. (2020). High yield cystic fibrosis (S. Gillespie, Ed.). Osmosis.org. https://www.osmosis.org/learn/High_Yield:_Cystic_fibrosis

Huether, S., & McCance, K. (2020). Pathophysiology the biologic basis for diseasein adults and children (8th ed.). Elsevier Health Sciences (US).

Miller, A. C., Comellas, A. P., Hornick, D. B., Stoltz, D. A., Cavanaugh, J. E., Gerke, A. K., Welsh, M. J., Zabner, J., & Polgreen, P. M. (2019). Cystic fibrosis carriers are at increased risk for a wide range of cystic fibrosis-related conditions. Proceedings of the National Academy of Sciences, 117(3), 1621–1627. https://doi.org/10.1073/pnas.1914912117

Sue Huether, Kathryn McCance. (2020). Pathophysiology the biologic basis for diseasein adults and children (8th ed.). Elsevier Health Sciences (US).

Yap, T. S., Jiwane, A., Belessis, Y., & Ooi, C. Y. (2014). Colonic atresia presenting as neonatal bowel obstruction in cystic fibrosis. Journal of Pediatric Gastroenterology and Nutrition, 58(4), e37–e38. https://doi.org/10.1097/mpg.0b013e3182769768

RE: Group A: Cystic Fibrosis

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Great post Scot. Cystic fibrosis is a chronic lung disease with systemic inflammation. (Ozturk et al, 2020). A study by Wadood and Solan (2014) shows that for people having cystic fibrosis, an aberrant gene causes the cells to secrete thick and sticky mucus, which clogs the different passageways or ducts in the body. Specifically, the defect is in the “cystic fibrosis transmembrane conductance regulator” (CFTR) gene, which is responsible for the movement of water and salt in and out the body cell.

Having such mutation can eventually lead to infections, respiratory failure and/or malnutrition can result. Particularly, in the digestive system, the abnormal mucus buildup can alter absorption and flow of digestive enzymes necessary for the absorption of food nutrients. Hence, patients can experience constipation, swollen abdomen, poor weight gain among others.

Certainly, the mother carries the defective cystic fibrosis gene. If both her partner carries the defective gene, she will have a 25% chance of producing a child with such disorder again in each pregnancy.

References Alterations in Cellular Processes NURS 6501 Discussion

Abdul Wadood Mohamed and Matthew Solan. (2014, February 19). Cystic Fibrosis: Causes, Diagnosis, and Treatment. Retrieved September 03, 2020, from https://www.healthline.com/health/cystic-fibrosis

ÖZTÜRK, G. K., EŞKİ, A., ÇELİK, F. Ç., CONKAR, S., GÜLEN, F., DEMİR, E., & KESKİNOĞLU, A. (2020). Prospective evaluation of vascular changes in acute respiratory infections in children with cystic fibrosis. Turkish Journal of Medical Sciences, 50(4), 1007–1014. https://doi-org.ezp.waldenulibrary.org/10.3906/sag-2002-61

, it is true that cells are the basic structural components of the body and are specialized to conduct different functions in the body. The central dogma also illustrates the pivotal role of genes in dictating the specialization of cells and subsequent events. Disease can alter the nature of cells thereby interfering with the normal cell functions. I find your case analysis quite intriguing, there are many patients who complain of sore throat that is related to allergic conditions and your analysis through genetic involvement is informative (Centers for Disease Control and Prevention,2021).

Group A streptococcus pharyngitis among children and adolescents is common and the identification of the genes associated with the common occurrence provides an avenue for solving the menace. Hypersensitivity relation to genetic composition also provides a better understanding of the recurrence of such cases (McCance & Huether, 2019). I also think that the bod defense system is triggered by recognition of the pathogen and the process of acting against the identified antigen leads to the symptoms, which include inflammation that would be felt as sore throat.

I agree hat the physiological processes upon identification of the antigen includes a variety of cells mediators that take part in the inflammatory pathway. These processes cause heat, swelling and redness. The patient characteristics that define different responses include age as age relates to immunity. Children are more susceptible to some diseases as compared to adults. Elderly people are also prone to some diseases that are not so common among young adults. Allergy to drugs also links to age as the allergy increases with age (Soderholm et al., 2018). I concur with you that severe allergic reaction would definitely be a concern

Alterations in Cellular Processes NURS 6501 Discussion References

Soderholm, A. T., Barnett, T. C., Sweet, M. J., & Walker, M. J. (2018). Group A streptococcal

pharyngitis: Immune responses involved in bacterial clearance and GAS‐associated immunopathology. Journal of leukocyte biology, 103(2), 193-213.

McCance, K. L. & Huether, S. E. (2019). Pathophysiology: The biologic basis for disease in

adults and children (8th ed.). Mosby/Elsevier.

Centers for Disease Control and Prevention. (2021, November 23). Pharyngitis (strep throat): Information for clinicians. Retrieved March 1, 2022, from https://www.cdc.gov/groupastrep/diseases-hcp/strep-throat.html

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After further review, I believe this 16-year-old boy has tonsillitis that is caused by bacteria.

                                                                               The Role Genetics Plays in the Disease
According to the Journal of Pediatrics and Pediatric Medicine (2020), family history in immune defense mechanism predispose to tonsil disorders. Biofilm formation theory explains that the underlying factor of recurrent/ chronic tonsillitis formation is the bacterial biofilm on the surface of the tonsils. Genetic inheritance determines the severity of tonsillar damage with immune response in pediatric patients with a history of recurrent chronic tonsillitis in both parents (Journal of Pediatrics and Pediatric Medicine, 2020).

                                                                                    Presenting Specific Symptoms
This 16-year-boy is presenting with reddened posterior pharynx with white exudate on tonsils that are enlarged to 3+, positive anterior and posterior cervical adenopathy, and positive strep test.

                                              The Physiologic Response to the Stimulus and why the Response Occurred
According to Arambula (2021), the medial epithelial surface of the tonsil forms from the second branchial pouch, as solid epithelial cores invaginate into the surrounding mesenchyme. These cores eventually canalize and form crypts. Around week 16–17 of embryological development, lymphocytes and lymphoid stem cells invade the deeper lamina propria and begin to form follicles and what will eventually become germinal centers. As these lymphoid elements grow, the deepest layers of the lamina propria eventually coalesce into a thin membrane that forms the tonsillar capsule. More superficial connective tissue fibers, primarily consisting of type III collagen, form septae that traverse between the crypts and become continuous with the deeper capsule (Arambula, A. et al., 2021).

                                                                                 The Cells Involved in this Process.
The cells that are involved in this process is IL-1B positive B Cells. The most common bacterium causing tonsillitis is Streptococcus pyogenes (group A streptococcus) (Mayo Clinic, 2022).

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

According to Bager (2018), this article discussed that genetic factors appear to predispose to severe tonsillitis underlying tonsillectomies, regardless of age and sex. Further studies are needed to understand how genes regulate the tonsils’ immune response against infections.

                                                                                                      References

Arambula, A., Brown, J. R., & Neff, L. (2021). Anatomy and physiology of the palatine tonsils, adenoids, and lingual tonsils. World journal

of otorhinolaryngology – head and neck surgery, 7(3), 155–160. https://doi.org/10.1016/j.wjorl.2021.04.003

Bager, P., Corn, G., Wohlfahrt, J., Boyd, H. A., Feenstra, B., & Melbye, M. (2018). Familial aggregation of tonsillectomy in early childhood

and adolescence. Clinical epidemiology, 10, 97–105. https://doi.org/10.2147/CLEP.S148575

Journal of Pediatrics and Pediatric Medicine. 2020. Clinical importance of family history in recurrent chronic tonsillitis pediatric patients:

mini-review. Retrieved from https://www.pediatricsresearchjournal.com/articles/clinical-importance-of-family-history-in-recurrent-Links to an external site.

chronic-tonsillitis-pediatric-patients-mini-review.html

Mayo Clinic. (2022). Tonsillitis. Retrieved from https://www.mayoclinic.org/diseases-conditions/tonsillitis/symptoms-causes/syc-Links to an external site.