This is often associated with an infection by Parvovirus B-19. The bone marrow's replacement of the cells is disrupted. This usually manifests with a rapid drop in hemoglobin levels. Luckily, this condition is usually self limited, and the treatment is mostly supportive. ecovery is usually heralded by an increase in the reticulocyte count.
In children and in adolescents, sickle cell disease causes growth retardation, a delay in the manifestation of secondary sexual characteristics and sexual maturation, and usually results in the child being significantly underweight. It often happens in childhood that the spleen enlarges, especially in the first year of life, resulting from the sequestration of a large number of sickled cells within the spleen. This is a painful process. The spleen will then have repeated infarcts, and splenic function is impaired during the enlargement. Eventually, the repeated episodes of infarct leave the spleen fibrotic and it shrinks in size,…...
mlaReferences
Bailey, K; Morris, JS; Thomas, P; Serjeant, GR. 1992. Fetal hemoglobin and early manifestations of homozygous sickle cell disease. Arch. Dis. Child. 67:517-20.
Charache, et. al. 1995. Effect of hydroxyurea on the frequency of painful crises in sickle cell anemia. Investigators of the Multicenter Study of Hydroxyurea in Sickle Cell Anemia. N Engl J. Med 332:1317-22.
Platt, OS; Brambilla, DJ; Rosse, WF; Milner, PF; Castro, O; Steinberg, MH; Klug, PP. 1994. Mortality in sickle cell disease. Life expectancy and risk factors for early death. N. Engl. J. Med 330: 1639-44.
Powars, D, et al. 1993. Sickle cell anemia. Beta's gene cluster haplotypes as genetic markers for severe disease expression. Am. J. Dis. Child. 147:1197-1202.
[Harvard University] it is observed that younger patients are much better than adults in post transplantation recovery and Current statistics project a more successful picture with a reduced mortality rate for bone marrow transplantation at 5%. Also, this is a relatively new procedure with a total of only 200 people with the sickle cell disease having undergone it. [Debby Golonka]
Gene Therapy
With the advancements in genetic science the search for a cure to sickle cell disease by way of gene therapy is ongoing. It has been many years since researchers cloned the beta globin gene and current research is focused on the locus control region and the use of adeno-associated viruses as vectors. Research is also focused on inserting the AAV into pluripotent stem cells so as to trigger the synthesis of healthy beta-globin naturally. However, there are still a lot of biomolecular mechanisms involved that need to be clearly…...
mlaBibliography
CDC, 'Sickle Cell Disease', retrieved on Feb 10th 2008, at http://www.cdc.gov/ncbddd/sicklecell/hcp_data.htm
Allan Platt, 'Emergency Management of Sickle cell Disease', Retrieved on Feb 10th 2008, from, http://www.emorypa.org/LAPAsicklehandout.doc
Nemours Foundation, "Sickle Cell Disease', Retrieved on Feb 10th 2008, at http://www.kidshealth.org/parent/medical/heart/sickle_cell_anemia.html
Doris L. Wethers, M.D, (2000), 'Sickle Cell Disease in childhood', Published by American Family Physician, Retrieved on Feb 10th 2008, from, http://www.aafp.org/afp/20000901/1013.html
The use of hydroxyurea and postoperative heparin prophylaxes were also included in the recorded observations made by the researchers. Standard statistical techniques including regression analysis were used to determine the levels of correlation that existed between transfusion therapy, pharmaceutical use, and complications.
Materials
As this was a retrospective study that did not involve any direct experimentation or even direct observation, the materials used were rather minimal compared to many other clinical surveys. Patient records formed the entirety of the research materials used; these were accessed in accordance with privacy laws and ethical standards for the use of private medical information, with the records rendered anonymous prior to primary research being conducted and with full hospital permission. ecords were accessed primarily electronically, though hard copies of the seventy-five case histories actually used as subjects in the study were also obtained after having been sanitized of identifying information.
Materials used in analysis were equally…...
mlaReferences
Al-Smak, Z.; Al-Falaki, M. & Pasha, A. (2008). "Assessment of perioperative transfusion therapy and complication in sickle cell disease patients undergoing surgery." Middle east journal of anesthesiology 19(5), pp. 983-96.
Ataga, K. & Key, N. (2007). "Hypercoagulability in Sickle Cell Disease: New Approaches to an Old Problem." Hematology.
Buck, J.: Casbard, A.; Llewelyn, C.; Johnson, T.; Davies, S. & Williamson, L. (2005). "Preoperative transfusion in sickle cell disease: a survey of practice in England." European journal of haematology 75, pp. 14 -- 21.
Haberkern, C.; Neumayr, L.; Orringer, E.; Earles, A.; Robertson, S.; Black, D.;…Vichinsky, E. (1997). "Cholecystectomy in Sickle Cell Anemia Patients: Perioperative Outcome of 364 Cases From the National Preoperative Transfusion Study." Blood 89(5), pp. 1533-42.
Variations of this technique include scatter photocoagulation and feeder vessel photocoagulation. Scatter photocoagulation is efficacious in the treatment for sea fan lesions. The desired outcome of this therapy is extraretinal fibroneovascular tissue regression. Localized scatter photocoagulation treats early proliferative changes. Once neovascularization invades the vitreous, localized scatter photocoagulation is generally less effective. If this technique does not result in regression of proliferative changes, feeder vessel photocoagulation may be used as an adjunct to induce infarction to the remaining sea fans.
Feeder vessel photocoagulation
Obliterating feeder vessels by retinal photocoagulation causes infarction of peripheral neovascular beds. This technique manages proliferative sickle retinopathy effectively, especially in cases where neovascularization persists after extensive scatter photocoagulation treatment 6. Feeder vessel photocoagulation is often complicated by vitreous hemorrhage, retinal detachments, choroidal ischemia, choroidal neovascularization, subretinal hemorrhage and/or fibrosis, or macular pucker and hole formation.
etinal cryotherapy
etinal cryotherapy is useful in treating peripheral retinal ischemia as opposed to…...
mlaReferences
1. Penman AD, Serjeant GR. Recent advances in the treatment of proliferative sickle cell retinopathy. Curr Opin Ophthalmol 1992;3:379-88.
2. Aiello LP. Clinical implications of vascular growth factors in proliferative retinopathies. Curr Opin Ophthalmol 1997;8:19-31.
3. Goldberg MF. Classification and pathogenesis of proliferative sickle retinopathy. Am J. Ophthalmol 1971;71:649-65.
4. Charache S. Eye disease in sickling disorders. Hematol Oncol Clin North Am 1996;10:1357-62.
Sickle Cell
What detracted or hindered participants from successfully completing the activity?
When viewing many of the team building, universal collaboration significantly hindered team performance. When performed alone, many participants performed particularly well. For example, in activity 4, participants that ran through the jump rope alone, did so with little trouble. However, when required to move in unison as a team, each member had to account for the others strengths and deficiencies. When looking at the video, some teams seemed disoriented when participating as they did not collaborate with one another. As the teams became larger throughout the activity, the complications regarding collaboration were exacerbated to the point that some teams failed the activity. During the jump rope activity, coordination and communication are important. These concepts hindered participants from successful completion of the task. Likewise, in activity 1, lack of communication hindered the participants. When drawing the home, each member had a…...
Sickle Cell Anemia: Ethical Considerations The only known cure for sickle cell disease is hematopoietic stem cell transplant (HSCT). Survival rates after HSCT are high, almost 100%, with cure rates of more than 90% (Nickel, Hendrickson & Haight, 2014; Nickel & Kamani, 2017). To receive HSCT most successfully, the donor is ideally a HLA-identical sibling. This raises several ethical concerns. The most pressing of all ethical concerns related to HSCT is whether the procedure should be offered to children with “less severe” cases of sickle cell disease (Nickel, Hendrickson & Haight, 2014; Nickel & Kamani, 2017). Less severe cases have been defined as those that do not have overt complications. However, Nickel, Hendrickson & Haight, (2014) point out that many “less severe” cases may become more severe over time, compelling healthcare workers to offer HSCT to all children with sickle cell disease. The same issue of access to HSCT is related…...
mlaReferences
Hoban, M.D., Cost, G. J., Mendel, M, C., et al (2015). Correction of the sickle cell disease mutation in human hematopoietic stem/progenitor cells. Blood 2015(125): 2597-2604.Holmes, M.C., Reik, A., Rebar, E.J., et al (2017). A potential therapy for beta-thalassemia (ST-400) and sickle cell disease. Blood 2017(130): 2066.Lavery, S.A., Islam, R., Hunt, J., et al (2016). The medical and ethical challenges of fertility preservation in teenage girls. Human Reproduction 31(7): 1501-1507.Nickel, R.S., Hendrickson, J.E. & Haight, A.E. (2014). The ethics of a proposed study of hematopoietic stem cell transplant for children with “less severe” sickle cell disease. Blood 2014(124): 861-866.Nickel, R.S. & Kamani, N. (2017). The ethics of hematopoietic stem cell transplantation for sickle cell disease. In Meier E., Abraham A., Fasano R. (eds) Sickle Cell Disease and Hematopoietic Stem Cell Transplantation, Springer, pp. 199-219.
Sickle Cell Disease
Recent years have seen a number of different investigations of the issues involved in the transition of care -- from pediatric-oriented to adult-oriented services -- for those who suffer from sickle cell disease. Although different researchers have taken a number of different approaches to the question, which I hope to survey in order to provide some report on the current state of opinion regarding transition of care, all are agreed that the current flurry of investigative interest stems ultimately from a piece of very good news: the vertiginous decline in mortality rates for children suffering from sickle cell disease. The historic response to a diagnosis of pediatric sickle cell disease was to minimize patient and parental expectations for prognosis, for the prospect of reaching adulthood would be slight indeed. Telfair Loosier (2004) note that survival rates for pediatric sickle cell disease have improved so vastly that the vast…...
mlaBibliography
Barakat, L.P., Lutz, M., Smith-Whitley, K., and Ohene-Frempong, K. (2005). "Is treatment adherence associated with better quality of life in children with sickle cell disease?" Quality of Life Research 14(2), 407-14.
Davies, S.C. And Oni, L. "Management of patients with sickle cell disease." (1997). British Medical Journal 315(7109), 656-60.
Doulton, D.M. (2010.) "From Cradle to Commencement: Transitioning Pediatric Sickle Cell Disease Patients to Adult Providers." Journal of Pediatric Oncology Nursing November 2009
Jenerette, C.M. And Brewer, C. (2010). "Health-related stigma in young adults with sickle cell disease." Journal of the National Medical Association 102.11 (2010): 1050-5.
III. Considering Current Challenges
As noted during the introductory chapter of this proposal, children routinely note how their parents cope with pain; their particular pain coping styles. During the implementation of this proposed study, this researcher expects to create a questionnaire... exploring the way parents of adolescents afflicted with SCD personally handled their pain. Both parents and adolescents will be solicited to contribute to the following components will the condensed/adapted to utilize in creating questions for parents of the adolescents with SCD, as well as, for interviewing and/or surveying adolescents with the disease.
Areas adolescents with SCD most need help
Obtaining accurate information about SCD
Considerations for coping with everyday challenges
Getting/giving help
Sharing strength; stories; suggestions with others
Supporting, as well as accepting support
How to best deal with family conflicts
How to cope when one feels he/she cannot
Learning to live, while living and learning
Simple strategies to solve complex problems
Securing spiritual strength
Surviving hospital stays
Having fallen even when it…...
mlaReferences
http://www.questiaschool.com/PM.qst?a=o&d=27269466
Bailey, E.J. (2000). Medical Anthropology and African-American Health. Westport, CT: Bergin & Garvey. Retrieved September 7, 2007, from Questia database: http://www.questia.com/PM.qst?a=o&d=27269543
Burlew, PhD, Kathleen, Telfair, DrPh, MSW, Joseph, Colangelo, MA, Linda, Wright, Ph., Elizabeth C.. "Factors That Influence Adolescent Adaptation to Sickle-cell Disease." Journal of Pediatric Psychology, Vol. 25, No. 5, 2000, PP. 287-299.
Gil, Karen M., Williams, David a., Thompson, Jr., Robert J., and. Kinney Thomas R. "Sickle Cell Disease in Children and Adolescents: The Relation of Child and Parent Pain Coping Strategies to Adjustment." Journal of Pediatric Psychology, Vol. 16. No. 5, 1991, pp. 643-663.
Essay Topic Examples
1.The Genetic Basis of Sickle Cell Anemia:
This essay would explore the genetic mutation responsible for sickle cell anemia, how the disease is inherited, and the molecular mechanisms leading to the characteristic sickle-shaped red blood cells. It would also discuss the prevalence of the mutation in different populations and the evolutionary theory of the heterozygote advantage in areas with malaria.
2.Managing ain in Sickle Cell Anemia atients:
The essay would delve into the strategies for managing the chronic pain that often accompanies sickle cell anemia, including pharmaceutical options, physical therapy, and alternative therapies. It would highlight the importance of a multidisciplinary approach and provide an overview of the challenges in treating chronic pain in these patients.
3.Advancements in Gene Therapy for Sickle Cell Disease:
Focusing on the cutting-edge research in genetic treatments, this essay would detail the current advancements in gene therapy and their potential to provide a cure for sickle cell anemia.…...
mlaPrimary Sources
Serjeant, Graham R. \"The Natural History of Sickle Cell Disease.\" Cold Spring Harbor Perspectives in Medicine, vol. 3, no. 10, 2013, a011783. doi:10.1101/cshperspect.a011783.
Ingram, V. M. \"A Specific Chemical Difference Between the Globins of Normal Human and Sickle-cell Anaemia Haemoglobin.\" Nature, vol. 178, 1956, pp. 792–794. doi:10.1038/178792a0.Steinberg, Martin H. et al. \"Disorders of Hemoglobin: Genetics, Pathophysiology, and Clinical Management.\" Cambridge University Press, 2001. ISBN 9780521622316.Bunn, Howard Franklin. \"Pathogenesis and Treatment of Sickle Cell Disease.\" The New England Journal of Medicine, vol. 337, no. 11, 1997, pp. 762–769. doi:10.1056/NEJM199709113371107.Platt, Orah S. et al. \"Pain in Sickle Cell Disease. Rates and Risk Factors.\" The New England Journal of Medicine, vol. 325, no. 1, 1991, pp. 11–16. doi:10.1056/NEJM199107043250103.
Essay Topic Examples
1. The Genetic Basis of Sickle Cell Anemia and its Inheritance atterns:
This essay will dissect the genetic underpinnings of sickle cell anemia, detailing the specific DNA mutation in the HBB gene responsible for the abnormal hemoglobin formation. The focus will be on how the disease is inherited in an autosomal recessive pattern and the implications for carriers and affected individuals.
2. Sickle Cell Anemia: Clinical Manifestations and Challenges in Management:
The essay will explore the multifaceted clinical manifestations of sickle cell anemia, ranging from periodic painful crises to chronic complications such as organ damage. It will discuss the current challenges healthcare professionals face in managing these symptoms and the impact on the quality of life of those affected.
3. Advancements in Treatment Options for Sickle Cell Anemia:
This essay aims to chart the progress in treatment modalities for sickle cell anemia, covering traditional…...
mlaPrimary Sources
Bunn, H. Franklin. \"Pathogenesis and treatment of sickle cell disease.\" New England Journal of Medicine 337.11 (1997): 762-769.
Rees, David C., et al. \"Sickle-cell disease.\" The Lancet 376.9757 (2010): 2018-2031.Lettre, Guillaume, et al. \"DNA polymorphisms at the BCL11A, HBS1L-MYB, and beta-globin loci associate with fetal hemoglobin levels and pain crises in sickle cell disease.\" Proceedings of the National Academy of Sciences 105.33 (2008): 11869-11874.Ware, Russell E., et al. \"Hydroxycarbamide in very young children with sickle-cell anaemia: a multicentre, randomised, controlled trial (BABY HUG).\" The Lancet 377.9778 (2011): 1663-1672.Steinberg, Martin H. \"Predicting clinical severity in sickle cell anaemia.\" British Journal of Haematology 129.4 (2005): 465-481.
Essay Topic Examples
1. The Genetic and Molecular Basis of Sickle Cell Anemia:
Explore the hereditary factors of sickle cell anemia, including the mutation in the HBB gene that leads to the production of abnormal hemoglobin. Discuss the implications of this mutation on the red blood cells and the resultant pathophysiology.
2. Sickle Cell Anemia and Its Global Health Impact:
Analyze the prevalence of sickle cell anemia in various regions around the world and how it affects different populations. Delve into the socio-economic factors that influence its treatment and the strategies different health systems adopt to manage the disease.
3. Living with Sickle Cell Anemia: Challenges and Coping Mechanisms:
Describe the day-to-day challenges faced by individuals living with sickle cell anemia. Evaluate how patients cope with symptoms, complications, and the psychological impacts of the disease, and highlight supportive measures that enhance quality of life.
4. Advances in the Treatment of Sickle Cell Anemia:
Discuss recent advances in medical…...
mlaPrimary Sources
\"The Molecular Basis of Sickle Cell Anemia: A Review\" by Ingram, Vernon M. Journal of Theoretical Biology, vol. 2, no. 1, 1961, pp. 56–76.
\"Sickle-Cell Anemia: A Look at Global Haplotype Distribution\" by Piel, Frédéric B., et al. Nature Reviews Genetics, vol. 16, no. 3, 2015, pp. 171–182.\"Genetic Modifiers of the Severity of Sickle Cell Anemia Identified Through a Genome-Wide Association Study\" by Lettre, Guillaume, et al. The American Journal of Human Genetics, vol. 88, no. 1, 2011, pp. 29–39.\"Sickle Cell Disease: Old Discoveries, New Concepts, and Future Promise\" by Rees, David C., et al. The Journal of Clinical Investigation, vol. 127, no. 4, 2017, pp. 1202–1214.\"A Multidimensional Genomic Approach to Sickle Cell Disease Research and Treatment\" by Connes, Philippe, et al. Physiological Genomics, vol. 48, no. 7, 2016, pp. 502–511.
Implications for ongoing research into genetic therapies and side effects/later developments are discussed at length.
Yannaki, E. & Stamatoyannopoulos, G. (2010). Hematopoietic stem cell mobilization strategies for gene therapy of beta thalassemia and sickle cell disease. Annals of the New York Academy of Sciences 1202: 59-63.
Though the clinical trial these two researchers are involved in does not yet have results that are ready for publication, the review of the risks they provide regarding the use of stem cell mobilization with G-CSF in patients with sickle cell is highly useful information. So, too, is the practice of pre-treating patients with hydroxyurea before administering the stem cell treatment, which the authors describe in detail and which forms the basis of the related clinical trial. Potential reduction of risks appears to be quite promising, though final results from the clinical trial and other supporting evidence will of course be required.
Ye, L., Chang, J.,…...
Stem Cells
ithout a doubt, one of the most controversial topics of popular discourse is stem cell research. Indeed, one would be hard pressed to peruse the newspaper or magazine stand without encountering some reference to the global stem cell debate -- but what, exactly, are stem cells, and why are they so controversial?
Stem cells intended for use in human applications are harvested from humans, umbilical cords and embryos. The reason these cells are so valuable is because of their capability to produce or "become" other cell types -- for example, brain cells, heart cells, skin, etc. In short, these are "master cells," holding the ability to divide in cultures, and to be manipulated allowing it to transform into any type of cell. Of course, this is extremely important due to the fact that scientists can use this capability to either create organs (thereby helping to meet the tremendous shortage of…...
mlaWorks Cited
Hall, MiMi and Kiely, Kathy. "Proponents of Stem-Cell Research Put on Pressure." USA Today. Online. July 2001. 10 April 2002. Retrieved from Web site on 15 March, 2004
Unfortunately, a tremendous amount of valuable research has been put on hold ever since the ban of federal funding for stem cell research. In the United States, the vast majority of medical research of all types that eventually lead to cures for disease are funded by the federal government. The federal ban on stem cell research does not completely prohibit it, but the effect is nearly the same, just as it would be if the federal government withdrew funding for cancer or diabetes research.
The main opposition to stem cell research comes from the Religious Right who believe that any form of research using fetal stem cells is wrong, because according to their religious views, every fertilized human egg should be considered as much a human being as any living person, even a microscopic zygote consisting of nothing more than four cells of human tissue. Certainly, the concept of religious freedom…...
Hydroxyurea
Segal, J.B., et al., (2008), Hydroxyurea for the Treatment of Sickle Cell Disease,
Baltimore, MD: AHRQ
Variables/Key Concepts
To determine efficacy, effectiveness, harms, and barriers of the use of hydroxyurea treatment of sickle cell disease for determining solutions and further research need.
Sampling
Research studies based on variables.
Conducted by experts in sickle cell disease management, clinical trial methodology, systematic review, epidemiological studies, and ethics and adherence research.
Instruments/Data Collection
Instruments were quality assessment, data extraction, and evidence grading. Literature inclusion tailored toward research questions. Studies on children and adults evaluated separately. Included randomized trials, non-randomized trials, cohort studies with control groups, and pre/post studies. Evaluations of data was based on variable-based research questions.
Results
Hydroxyurea lowered the rate of hospitizations among children with sickle cell disease and raised HbF cell percentages.
Strengths/Limitations
Limited evidence for toxicity, barriers, and guide dosing. Insufficient evidence for efficacy and safety.
Critique
Even with the use of experts, there was no appropriate design method mentioned. Identifies research…...
I. Introduction
A. Definition of gene editing and its potential applications in medicine
B. Ethical considerations and potential risks
II. Techniques for Gene Editing
A. CRISPR-Cas9 system
B. Other gene editing technologies (e.g., TALENs, ZFNs)
C. Comparison of different techniques
III. Applications of Gene Editing in Medicine
A. Treatment of genetic diseases (e.g., sickle cell anemia, cystic fibrosis)
B. Cancer therapy (e.g., CAR T-cell therapy)
C. Regenerative medicine (e.g., tissue engineering, organ transplantation)
IV. Ethical and Societal Implications of Gene Editing
A. Off-target effects and unintended consequences
B. Long-term health risks and the need for monitoring
C. Concerns about genetic enhancement and the....
Innovative Medical Treatments and Technologies Pioneered by the Cleveland Clinic
The Cleveland Clinic, a world-renowned academic medical center, has a long-standing history of innovation and pioneering cutting-edge medical treatments and technologies. With its commitment to research and development, the Clinic continues to push the boundaries of healthcare, offering patients access to the latest advancements in medicine. Here are some of the innovative treatments and technologies currently being pioneered by the Cleveland Clinic:
1. Robotic Surgery:
The Cleveland Clinic is a leader in robotic surgery, using advanced robotic systems to perform complex procedures with greater precision, accuracy, and minimally invasive techniques. The da Vinci....
1. Stigma significantly impacts adolescents with sickle cell disease in their thesis writing process by leading to feelings of inadequacy and self-doubt, resulting in decreased motivation and productivity.
2. The fear of being judged or misunderstood due to the stigma associated with sickle cell disease can create barriers for adolescents in their thesis writing process, hindering their ability to fully express themselves and their ideas.
3. Stigma surrounding sickle cell disease can lead to isolation and a sense of alienation for adolescents, making it difficult for them to seek help or support with their thesis writing, further exacerbating their struggles.
....1. The pervasive stigma associated with sickle cell disease significantly undermines the academic confidence of adolescents, leading to a reluctance to engage in thesis writing due to fears of being judged or misunderstood. This thesis explores how the internalization of stigma affects the self-esteem and academic performance of adolescents with sickle cell disease, particularly in the context of thesis writing, where personal expression and vulnerability are paramount. Evidence from psychological studies indicates that stigma can lead to increased anxiety and reduced cognitive function, which directly impacts the ability to write effectively.
2. Stigma surrounding sickle cell disease often results in adolescents....
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