Nursing diagnoses in Turner syndrome
10.15343/0104-7809.202145066074
Keywords:
Turner syndrome. Genetics. Standardized Nursing TerminologyAbstract
Turner's syndrome (TS) is a rare genetic disease and has an important impact on the health care of these patients. Although TS is not uncommon, there are still gaps in the literature about nursing care. The objective of the study was to infer nursing diagnoses from the clinical conditions presented by patients with Turner syndrome, according to NANDA-I taxonomy II. This is a cross-sectional and retrospective study, with a quantitative approach. The sample consisted of 59 patients with TS, diagnosed from 1993 to 2019. The data were extracted from their medical records and submitted to diagnostic inference based on the NANDA-I taxonomy II. The clinical judgment occurred with the main dysmorphias described among the patients. Regarding the results, the most common chromosomal constitution was X chromosome monosomy (40.7%) and the mean age of the patients at diagnosis was 15.9 years (ranged from 1 month to 34 years). The main dysmorphias described were: short stature, ulna valgus, pectus excavatum, and ogival palate. The diagnoses inferred for the studied population were social isolation, impaired physical mobility, impaired swallowing, low situational self-esteem, and ineffective breathing patterns. It was concluded that the proposal of nursing diagnoses makes it possible improve the assistance of these patients, based on evidence in the care of patients with rare diseases.
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References
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21. Mohan K, Ellanti P, Hadidi O, Bossut C. Tardy ulnar nerve palsy following a neglected childhood lateral epicondyle fracture non-union and resultant cubitus valgus deformity. BMJ Case Rep. 2018;11(1):e227918. [cited 2020 Aug 10]. Available from: https://doi.org/10.1136/bcr-2018-227918
22. Berwig LC, Silva AMT. Análise quantitativa do palato duro de respiradores orais: revisão de literatura. Rev. soc. bras. fonoaudiol. 2011;16(4):483-487. [cited 2020 Aug 10]. Disponível em: https://doi.org/10.1590/S1516-80342011000400020
23. Wolstencroft J, Skuse D. Social skills and relationships in Turner syndrome. Curr Opin Psychiatry. 2019;32(2):85-91. [cited 2020 Aug 10]. Available from: https://doi.org/10.1097/yco.0000000000000472
24. Kelly RE Jr., Robert J. Obermeyer, Donald Nuss. Diminished pulmonary function in pectus excavatum: from denying the problem to finding the mechanism. Ann Cardiothorac Surg. 2016; 5(5): 466–475. [cited 2020 Aug 10]. Available from: https://dx.doi.org/10.21037%2Facs.2016.09.09
25. Kelly RE Jr, Shamberger RC, Mellins RB, Mitchell KK, Lawson ML, Oldham K, et al. Prospective multicenter study of surgical correction of pectus excavatum: design, perioperative complications, pain, and baseline pulmonary function facilitated by internet-based data collection. J Am Coll Surg. 2007;205(2):205-16. [cited 2020 Aug 10]. Available from: https://doi.org/10.1016/j.jamcollsurg.2007.03.027
2. Backeljauw P, Klein K. Sex hormone replacement therapy for individuals with Turner syndrome. Am J Med Genet C Semin Med Genet. 2019;181(1):13-17. [cited 2020 Aug 10]. Available from: https://doi.org/10.1002/ajmg.c.31685
3. Gravholt CH, Andersen NH, Conway GS, Dekkers OM, Geffner ME, Klein KO, et al. Clinical practice guidelines for the care of girls and women with Turner syndrome: proceedings from the 2016 Cincinnati International Turner Syndrome Meeting. Eur J Endocrinol. 2017;177(3):G1-G70. [cited 2020 Aug 10]. Available from: https://doi.org/10.1530/EJE-17-0430
4. de Araújo C, Galera BB, Galera MF, de Medeiros SF. Clinical and cytogenetic aspects of the Turner syndrome in the Brazilian Western region. Rev Bras Ginecol Obstet. 2010;32(8):381-5. [cited 2020 Aug 10]. Disponível em: https://doi.org/10.1590/S0100-72032010000800004
5. Noordman I, Duijnhouwer A, Kapusta L, Kempers M, Roeleveld N, Schokking M, et al. Phenotype in girls and women with Turner syndrome: Association between dysmorphic features, karyotype and cardio-aortic malformations. Eur J Med Genet. 2018;61(6):301-306. [cited 2020 Aug 10]. Available from: https://doi.org/10.1016/j.ejmg.2018.01.004
6. Sharoff L. Holistic Nursing in the Genetic/Genomic Era. J Holist Nurs. 2016;34(2):146-53. [cited 2020 Aug 10]. Available from: https://doi.org/10.1177%2F0898010115587401
7. Hickey KT, Taylor JY, Barr TL, Hauser NR, Jia H, Riga TC, et al. Nursing genetics and genomics: The International Society of Nurses in Genetics (ISONG) survey. Nurse Educ Today. 2018;63(2):12-17. [cited 2020 Aug 10]. Available from: https://doi.org/10.1016/j.nedt.2018.01.002
8. Cardoso MCV, Junior DAC. Enfermagem em genômica: o aconselhamento genético nas práticas assistenciais. Rev Min Enferm. 2016;20:e956. [cited 2020 Aug 10]. Disponível em: http://www.dx.doi.org/10.5935/1415-2762.20160025
9. Floria Santos M, Ramos ES. Cuidado de enfermagem baseado em genômica para mulheres com síndrome de Turner. Rev. Latino-Am. Enfermagem. 2006;14(5):645-650. [cited 2020 Aug 10]. Disponível em: https://doi.org/10.1590/S0104-11692006000500002
10. NANDA International. Diagnósticos de Enfermagem da Nanda: definições e classificação 2018-2020. 10a ed. Porto Alegre: Artmed; 2018.
11. Marqui, ABT. Síndrome de Turner e polimorfismo genético: uma revisão sistemática. Rev paul pediatr. 2015;33(3):363-370. [cited 2020 Aug 10]. Disponível em: https://doi.org/10.1016/j.rpped.2014.11.014
12. Miguel Neto J, Marini SH, Faria AP, Guerra Júnior G, Guerra AT. Variables associated with diagnostic delay in Turner syndrome. Rev paul pediatr. 2011;29(1):67-72. [cited 2020 Aug 10]. Disponível em: https://doi.org/10.1590/S0103-05822011000100011
13. Jung MP, Amaral JL, Fontes RG, Costa AT, Wuillaume SM, Cardoso MH. Diagnosis of Turner’s Syndrome: the experience of the Rio de Janeiro State Institute of Diabetes and Endocrinology between 1970 and 2008. Rev Bras Saude Mater Infant. 2010;10(1):117-124. [cited 2020 Aug 10]. Disponível em: https://doi.org/10.1590/S1519-38292010000100012
14. Zelinska N, Shevchenko I, Globa E. Nationwide Study of Turner Syndrome in Ukrainian Children: Prevalence, Genetic Variants and Phenotypic Features. J Clin Res Pediatr Endocrinol. 2018;10(3):256-263. [cited 2020 Aug 10]. Available from: https://doi.org/10.4274/jcrpe.5119
15. Brasil. Ministério da Saúde. Protocolo Clínico e Diretrizes Terapêuticas: Síndrome de Turner. Brasília (DF). 2013. Disponível em: http://portalarquivos.saude.gov.br/images/pdf/2014/abril/03/pcdt-sindrome-de-turner-livro-2010.pdf
16. Baxter L, Bryant J, Cave CB, Milne R. Recombinant growth hormone for children and adolescents with Turner syndrome. Cochrane Database Syst. Rev. 2007;24(1):CD003887. [cited 2020 Aug 10]. Available from: https://doi.org/10.1002/14651858.cd003887.pub2
17. Ibarra-Ramírez M, Martínez-de-Villarreal LE. Clinical and genetic aspects of Turner’s syndrome. Medicina Universitaria. 2016;18(70):42-48. [cited 2020 Aug 10]. Available from: https://doi.org/10.1016/j.rmu.2016.03.003
18. Flowers E, Martin M, Abid H, Binford S, Mackin L. Pairing pedagogical and genomic advances to prepare advanced practice nurses for the era of precision health. BMC Med Educ. 2019;19(1):112. [cited 2020 Aug 10]. Available from: https://doi.org/10.1186/s12909-019-1542-x
19. Hu J, Yu L, Modanloo S, Zhou Y, Yang Y. A theoretical framework for interaction of nursing discipline with genetics and genomics. Int J Nurs Sci. 2018;5(4):336-342. [cited 2020 Aug 10]. Available from: https://doi.org/10.1016/j.ijnss.2018.08.004
20. Sandberg DE, Gardner M. Short Stature: Is It a Psychosocial Problem and Does Changing Height Matter?. Pediatr Clin North Am. 2015;62(4):963-82. [cited 2020 Aug 10]. Available from: https://doi.org/10.1016/j.pcl.2015.04.009
21. Mohan K, Ellanti P, Hadidi O, Bossut C. Tardy ulnar nerve palsy following a neglected childhood lateral epicondyle fracture non-union and resultant cubitus valgus deformity. BMJ Case Rep. 2018;11(1):e227918. [cited 2020 Aug 10]. Available from: https://doi.org/10.1136/bcr-2018-227918
22. Berwig LC, Silva AMT. Análise quantitativa do palato duro de respiradores orais: revisão de literatura. Rev. soc. bras. fonoaudiol. 2011;16(4):483-487. [cited 2020 Aug 10]. Disponível em: https://doi.org/10.1590/S1516-80342011000400020
23. Wolstencroft J, Skuse D. Social skills and relationships in Turner syndrome. Curr Opin Psychiatry. 2019;32(2):85-91. [cited 2020 Aug 10]. Available from: https://doi.org/10.1097/yco.0000000000000472
24. Kelly RE Jr., Robert J. Obermeyer, Donald Nuss. Diminished pulmonary function in pectus excavatum: from denying the problem to finding the mechanism. Ann Cardiothorac Surg. 2016; 5(5): 466–475. [cited 2020 Aug 10]. Available from: https://dx.doi.org/10.21037%2Facs.2016.09.09
25. Kelly RE Jr, Shamberger RC, Mellins RB, Mitchell KK, Lawson ML, Oldham K, et al. Prospective multicenter study of surgical correction of pectus excavatum: design, perioperative complications, pain, and baseline pulmonary function facilitated by internet-based data collection. J Am Coll Surg. 2007;205(2):205-16. [cited 2020 Aug 10]. Available from: https://doi.org/10.1016/j.jamcollsurg.2007.03.027
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Published
2021-03-10
How to Cite
Rouvel Nunes, M., Travi Canabarro, S., Vanz, A. P., Machado Rosa, R. F., & Gazzola Zen, P. R. (2021). Nursing diagnoses in Turner syndrome: 10.15343/0104-7809.202145066074. O Mundo Da Saúde, 45, 066–074. Retrieved from https://revistamundodasaude.emnuvens.com.br/mundodasaude/article/view/1026
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