Adolescent hope in the context of nursing care: A scoping review.

PROBLEM: Hope is a multidimensional concept with a multidisciplinary approach in different areas of health intervention. From the perspective of the discipline of nursing, the concept of hope in the adolescent has been defined. However, its characterization is not consensually established but is necessary for nurses to be able to plan interventions aimed at its promotion. This scoping review aims at mapping the existing knowledge about adolescent's hope in the context of nursing care and contributing to the improvement of nursing interventions. ELIGIBILITY CRITERIA: The review was conducted using Joanna Biggs Institute methodology, and was conducted in Pubmed, Cinahl, Scielo, Ebscohost, Open Grey, Mednar, Worldwidescience, and Science Direct. Inclusion criteria included quantitative, qualitative, or mixed studies as well as systematic reviews and opinion articles, published in Portuguese or English, without publication date limitation, with "adolescents" as the population, "hope" as a concept, and "nursing" as context. Overall studies quality was quite high. The extraction of relevant information from each selected article was summarized in a table that is publicly available at Open Science Framework. SAMPLE: A total of 1259 articles were identified by title and 1220 were excluded by abstract.25 empirical articles met the inclusion criteria. RESULTS: The concept of hope in this population was associated with other concepts such as resilience or well-being. Nursing interventions increase hope with positive outcomes in healthy or with chronic/complex diseases adolescents. CONCLUSION: Hope is an essential component of nursing care for healthy, with chronic or complex disease adolescents with increased interest in the scientific community. IMPLICATIONS: This review recommends orientations for the nursing process with a central focus in address human responses, nursing interventions, and the results of those interventions.

8p23.1 duplication syndrome differentiated from copy number variation of the defensin cluster at prenatal diagnosis in four new families.

BACKGROUND: The 8p23.1 duplication syndrome and copy number variation of the 8p23.1 defensin gene cluster are cytogenetically indistinguishable but distinct at the molecular level. To our knowledge, the 8p23.1 duplication syndrome has been described at prenatal diagnosis only once and we report our experience with four further apparent duplications ascertained at prenatal diagnosis. METHODS: Additional material at band 8p23.1 was detected using conventional G-banded cytogenetics in each case. Multiplex Ligation-dependent Probe Amplification (MLPA) or Fluorescence In Situ Hybridisation (FISH) were used depending on whether only DNA (Cases 1 and 4) or cytogenetic preparations (Cases 2 and 3) were available from the laboratory of origin. The extent of the duplication in Case 1 was retrospectively determined using array Comparative Genomic Hybridisation (array CGH). RESULTS: Three cases of 8p23.1 duplication syndrome were found (Cases 1 to 3). Two were de novo and continued to term and the third, a paternally transmitted duplication, was terminated because of a previous child with psychomotor delay and 8p23.1 duplication syndrome. Case 1 was ascertained with a hypoplastic left heart but the ventricular septal and interventricular defects, in Cases 2 and 3 respectively, were found after ascertainment for advanced maternal age. By contrast, case 4 was a maternally transmitted copy number variation of the defensin cluster with normal outcome. CONCLUSIONS: Our data underline the need to differentiate 8p23.1 duplications from copy number variation of the defensin cluster using FISH, MLPA or array CGH. Cardiac defects were ascertained by ultrasound in only one of the three duplication 8p23.1 pregnancies but were visible in two of the three at 21 to 22 weeks gestation. Our results provide further evidence that both deletion and duplication of the GATA4 transcription factor can give rise to a variety of conotruncal heart defects with variable penetrance and expressivity.