Junctional Epidermolysis Bullosa

Published: 2021-07-07 00:09:18
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Background to the Scientific StudyThe study in the journal article talks about a lethal skin disease known as junctional epidermolysis bullosa. This disease is caused by the mutations in genes (Dang and Murrell, 2015, p.23). The people who are attacked by JEB develop skin diseases. The chronic wounds on the patient’s skin result to the development of the skin cancer. In this study, a seven-year-old boy is suffering from Junctional epidermolysis bullosa. The disorder came because of the generation of autologous transgenic keratinocyte culture (De Rosa et al.2014,p.5). The study in the journal focuses on transforming the lives of the boy to be a better one. Many patients affected by junctional epidermolysis bullosa die before reaching their adolescent stage; however, the study in the journal combines several approaches to save the life of the seven-year-old boy. The above research applies the method of gene therapy and ex vivo cells using other stem cells to deal with the epidermis. The study does a clonal tracing, which shows that the skin in the human being is enhanced by the existing small number of the old stem cells. There are three genes in the human body, which include LAMB3, LAMA3 and LAMC (Kiritsi et al.2015, p.200), the mutation of these genes result in the epidermis.Summary of key findingsFrom the study in the journal article, all the epidermis on the individual suffering from JEB, are possible to be treated by autologous transgenic epidermal cultures. This way of replacement should contain the appropriate number of the stem cells. All mammals should have a proper generation of tissue in their cells and the only way to prove the development is the existent of stem cells. From the study, many clinics have used epidermal cultures for more than 30 years to control JEB. However, there is a challenge of proving the engraftment of stem cells, which are cultured. In addition to that, there is also indirect evidence that holoclones identification of stem cells from human epithelial regeneration. Another important thing evident in the study is that transient amplifying progenitors do not survive for long after grafting.In the journal, the study states that they wither after two months of grafting (Melo et al.2014, p.730). The progenitors may persist for a period, which is essential during the repair, and the renewal of the stem cells. Besides that, there are some cells, which contribute very little to the generation and healing of the wounds in the human body. As shown earlier in the study, those people who suffer from JEB have several injuries in their body that even cause skin cancer to them. Before doing grafting on the patient, there must be enough cells that form the holoclones. In the other part of the journal, epidermis can be generated by transgenic epidermal stem cells. On the other hand, the study has given room for the use of therapy to heal some of epidermolysis (Masunaga et al.2015, p.64).The findings in the journal are supported by the data. For instance, the data shows that the paraclones and meroclones cannot renew themselves. They are increasingly lost during the renewal of epidermal in vivo. Therefore, these two holoclones cannot be used in the maintenance of epidermis. The sample used in figure seven in the journal shows that the original holoclones need to go through self-renewal to regenerate skin.Strength and weakness of the studyEvery study has its strength and weakness. When analyzing the survey on this article journal, its advantage is that it combines the two methods to find the solution to the boy’s problem. The study is combining the gene therapy and the ex vivo cell to find the best solution to the patient. It is evident that after six weeks in the hospital, the health of the seven-year-old boy had turned worse. The evidence made the medical team conclude that the method of therapy was not the best approach (Sartelet et al, 2015, p.545). Another critical strength of the study is that it provides a room for the use of other methods of diagnosing this infection. On the last part of the study, it is elaborated that further studies are required to prove some of the things related to the gene approach of dealing with JEB (Sproule et al.2016, p.60). However, on the weakness part, the research only focuses on how to treat the infection but fails to show how to prevent the disease. As much as treatment is right but it is better to avoid than cure. If it were a matter of mutation or generation, the study would have outlined the ways of the disorder during generation to prevent the attack to many other people.Reflection on whether newspaper article accurately reports the results of the studyThe procedure of helping the boy in this article matches what is in the study. The doctors used the grafting method whereby, a piece of the boy’s body skin was added to the regular part of his skin. This is a process of grafting which was stated in the study. The doctors have applied the gene therapy to heal the boy (Pfendner and Lucky, 2014, p.87). The study illustrated that epidermis infection is a mutation problem, and the gene therapy is another best way to deal with the disease. On the other hand, the accuracy of the news article may be questionable. The news article has some limitations. For instance, the article does not outline clearly how the doctors did the grafting procedure. This limitation might make someone doubt if the process was active or not. In addition to that, the article would have elaborated on the changes that the seven-year boy was going through after the therapy process. It has jumped to the conclusion on how the boy was moving well not elaborating on the changes. On the last bit, the articles fail to talk about other methodologies that may have been used but failed.The news article is not providing awareness efficiently to the medical students. It may only be relevant to people who may have been in the field for a long time. However, news has been well arranged and the methodology applied is evident. Despite the message being direct, it has elaborated one of the best ways of dealing with the infection that is the gene therapy.ReferencesDang, N. and Murrell, D.F., 2015. Integrins A6 and B4 and Their Role in Junctional Epidermolysis Bullosa and Recessive Epidermolysis Bullosa Simplex. In Blistering Diseases (pp. 85-90). Springer, Berlin, Heidelberg.De Rosa, L., Carulli, S., Cocchiarella, F., Quaglino, D., Enzo, E., Franchini, E., Giannetti, A., De Santis, G., Recchia, A., Pellegrini, G. and De Luca, M., 2014. Long-term stability and safety of transgenic cultured epidermal stem cells in gene therapy of junctional epidermolysis bullosa. Stem Cell Reports, 2(1), pp.1-8.Kiritsi, D., Huilaja, L., Franzke, C.W., Kokkonen, N., Pazzagli, C., Schwieger-Briel, A., Larmas, M., Bruckner-Tuderman, L., Has, C. and Tasanen, K., 2015. Junctional epidermolysis bullosa with LAMB3 splice-site mutations. Acta dermato-venereologica, 95(7), pp.849-851.Masunaga, T., Niizeki, H., Yasuda, F., Yoshida, K., Amagai, M. and Ishiko, A., 2015. Splicing abnormality of integrin β4 gene (ITGB4) due to nucleotide substitutions far from splice site underlies pyloric atresia-junctional epidermolysis bullosa syndrome. Journal of dermatological science, 78(1), pp.61-66.Melo, S.P., Lisowski, L., Bashkirova, E., Zhen, H.H., Chu, K., Keene, D.R., Marinkovich, M.P., Kay, M.A. and Oro, A.E., 2014. Somatic correction of junctional epidermolysis bullosa by a highly recombinogenic AAV variant. Molecular Therapy, 22(4), pp.725-733.Pfendner, E.G. and Lucky, A.W., 2014. Junctional epidermolysis bullosa.Sartelet, A., Harland, C., Tamma, N., Karim, L., Bayrou, C., Li, W., Ahariz, N., Coppieters, W., Georges, M. and Charlier, C., 2015. A stop‐gain in the laminin, alpha 3 gene causes recessive junctional epidermolysis bullosa in Belgian Blue cattle. Animal genetics, 46(5), pp.566-570.Sproule, T.J., Philip, V., Chaudhry, N., Sundberg, J.P. and Roopenian, D.C., 2016. 374 Complex genetics of non-herlitz junctional epidermolysis bullosa. Journal of Investigative Dermatology, 136(5), p.S66.

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