{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,11,6]],"date-time":"2026-11-06T15:12:53Z","timestamp":1793977973809,"version":"4.8.0"},"reference-count":26,"publisher":"FapUNIFESP (SciELO)","issue":"1","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Rev. Bras. Enferm."],"published-print":{"date-parts":[[2018,2]]},"abstract":"<jats:p>ABSTRACT  Objective: Identify the signs and symptoms of patients with Gaucher Disease, inferring possible priority nursing diagnoses.  Method: Cross-sectional study, developed in a specialized laboratory, between 2013 and 2015. The sample (n = 91) comprised the records of patients with genetic diagnosis for Gaucher Disease. The study respected research norms.  Results: Prevalence of female sex (57.1%), age at diagnosis between 0 and 10 years, and origin from the Southeast Region of Brazil were prevalent. Hematologic changes, bone pain, hepatomegaly, splenomegaly, and fatigue were the most recurrent signs and symptoms. The inferred diagnoses for the studied population were: Risk for bleeding; Fatigue; Chronic pain and Acute pain; Impaired physical mobility; Imbalanced nutrition: less than body requirements; and Risk for Developmental Delay.  Conclusion: The establishment of Priority Nursing Diagnoses based on signs and symptoms makes it possible to achieve expected outcomes for each individual in the care context.<\/jats:p>","DOI":"10.1590\/0034-7167-2016-0434","type":"journal-article","created":{"date-parts":[[2017,12,16]],"date-time":"2017-12-16T22:53:33Z","timestamp":1513464813000},"page":"104-110","source":"Crossref","is-referenced-by-count":4,"title":["Signs and symptoms in Gaucher Disease: priority nursing diagnoses"],"prefix":"10.1590","volume":"71","author":[{"given":"M\u00e1rcia Koja","family":"Breigeiron","sequence":"first","affiliation":[{"name":"Universidade Federal do Rio Grande do Sul,  Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Vit\u00f3ria da Costa","family":"Moraes","sequence":"additional","affiliation":[{"name":"Universidade Federal do Rio Grande do Sul,  Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Janice Carneiro","family":"Coelho","sequence":"additional","affiliation":[{"name":"Universidade Federal do Rio Grande do Sul,  Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"530","reference":[{"issue":"Suppl 1","key":"ref1","doi-asserted-by":"crossref","first-page":"S2","DOI":"10.1002\/ajh.24054","article-title":"The history and accomplishments of the ICGG Gaucher registry","volume":"90","author":"Weinreb NJ","year":"2015","journal-title":"Am J Hematol"},{"issue":"2","key":"ref2","first-page":"319","article-title":"Gaucher disease in Iraqi children: clinical, diagnostic & therapeutic aspects","volume":"32","author":"Thejeal RF","year":"2016","journal-title":"Pak J Med Sci"},{"issue":"1","key":"ref3","doi-asserted-by":"crossref","first-page":"122","DOI":"10.1590\/S0103-05822011000100019","article-title":"Doen\u00e7a de Gaucher: uma desordem subdiagnosticada","volume":"29","author":"Ferreira CS","year":"2011","journal-title":"Rev Paul Ped"},{"key":"ref4","doi-asserted-by":"crossref","first-page":"1088","DOI":"10.1590\/S0080-62342009000500013","article-title":"Constru\u00e7\u00e3o de instrumento para avaliar a acur\u00e1cia diagn\u00f3stica","volume":"43","author":"Matos FGOA","year":"2009","journal-title":"Rev Esc Enferm USP"},{"key":"ref5","series-title":"Diagn\u00f3sticos de Enfermagem da Nanda: defini\u00e7\u00f5es e classifica\u00e7\u00e3o 2015-2017","year":"2015","edition":"10. ed"},{"key":"ref6","series-title":"Aplica\u00e7\u00e3o do processo de enfermagem: promo\u00e7\u00e3o do cuidado colaborativo","author":"Alfaro-Lefevre R","year":"2010","edition":"7\u00aa ed"},{"key":"ref7","series-title":"Resolu\u00e7\u00e3o 466, de 12 de dezembro de 2012: diretrizes e normas regulamentadoras de pesquisa em seres humanos","year":"2012"},{"issue":"5","key":"ref8","doi-asserted-by":"crossref","first-page":"345","DOI":"10.1016\/j.bjhh.2014.05.005","article-title":"Study of enzyme replacement therapy for Gaucher Disease: comparative analysis of clinical and laboratory parameters at diagnosis and after two, five and ten years of treatment","volume":"36","author":"Souza AM","year":"2014","journal-title":"Rev Bras Hematol Hemoter"},{"key":"ref9","series-title":"Relat\u00f3rio Anual de 2010","year":"2010"},{"issue":"2","key":"ref10","doi-asserted-by":"crossref","DOI":"10.1212\/NXG.0000000000000057","article-title":"Clinical course and prognosis in patients with Gaucher disease and parkinsonism","volume":"2","author":"Lopez G","year":"2016","journal-title":"Neurol Genet"},{"key":"ref11","series-title":"Relat\u00f3rio Anual de 2007","year":"2007"},{"key":"ref12","series-title":"Relat\u00f3rio Anual de 2011","year":"2011"},{"issue":"1","key":"ref13","doi-asserted-by":"crossref","first-page":"58","DOI":"10.1002\/ajmg.a.30787","article-title":"Application of a comprehensive protocol for the identification of Gaucher disease in Brazil","volume":"136","author":"Michelin K","year":"2005","journal-title":"Am J Med Genet A"},{"key":"ref14","series-title":"Rastreamento populacional para Doen\u00e7a de Gaucher em Tabuleiro do Norte - 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