Early diagnosis of rare syndromes: Integrative review
Journal: International Journal of Advanced Engineering Research and Science (Vol.9, No. 11)Publication Date: 2022-11-26
Authors : Ana Emília Araújo de Oliveira Sandyla Leite de Sousa Danyele Rodrigues de Lira Murilo Ricardo Diniz Filho Virna Vieira Freitas Araújo Antoniel Cardoso Marques Gabriel Gardhel Costa Araujo Uilian Sampaio Santiago Francisco Douglas de Moura Santos;
Page : 064-070
Keywords : Doenças raras; Diagnóstico Precoce; Criança;
Abstract
Some syndromes are classified as rare by the low frequency with which they occur in the population and are characterized by a specific set of signs and symptoms, of genetic cause, due to an abnormality involving one or more chromosomes or genes (mutation), which can be by alterations, deletion, duplication in nitrogenous bases, among others. However, affected people do not always receive an early diagnosis and, in addition, there are few therapeutic options and scientific research in this area is rare. This study is an integrative literature review (ILR) that is based on scientific findings in order to identify and understand problems, situations and vulnerabilities related to the population. The studies were published in the years 2018, 2019, 2020 and 2021, being the equivalent of 14.29% in the year 2018, 28.57% in the year 2019, 14.29% in the year 2020 and about 42, 86% in the year 2021. Therefore, 25.00% of the studies were in France, 12.50% in Brazil, 12.50% in the United States, 12.50% in Germany, 12.50% in the Netherlands and Spain respectively. Thus, the contents of the research found referred to the early diagnosis of rare syndromes.
Other Latest Articles
- Sleep quality and mental health of health workers in the COVID-19 pandemic
- Use of benzodiazepines and the risk of falls in the elderly
- Analysis of Milk Consumption for Toddlers in the District of Tompaso Barat, Regency of Minahasa, Province of North Sulawesi
- Late diagnosis of Autism Spectrum Disorder (ASD): Repercussions and challenges encountered in adolescence and adulthood
- Youth and adult education in Brazil: The challenges of an invisible education
Last modified: 2022-11-26 14:03:02