Objective: To characterize cases of children admitted to the Neonatal Intensive Care Unit of a tertiary university hospital who died in the period ranging from January 01, 2012 to July 31, 2014, and who required palliative care and/or were subjected to it.Methods: A retrospective descriptive study was carried out by reviewing the medical records of these patients to collect data and to perform descriptive statistical analysis.Results: During the study period, 49 children died after at least 48 hours from the time of admission. Of those, 18% children were extremely premature infants and 77% children had malformations. Although necessary for all of the patients in this study, palliative care was provided for only 20% of patients who died. Among the 12 babies who were not resuscitated, 33% of babies were not in palliative care. The Pain and Palliative Care Unit of the institution followed only four neonates in palliative care. These patients were using many invasive devices, had high therapeutic investment, and also altered pain scale scores.Conclusions: This study exhibited a large proportion of newborn infants with serious diseases and health conditions. In a few cases the patients received palliative care, but most of them were not even discussed under palliative point of view. We hope that this study will call attention to the need to propose protocols and implement training for the best treatment of these children.

ABSTRACT Objective: To describe the reports of parents of newborns (NB) with congenital malformations hospitalized in a Neonatal Intensive Care Unit (NICU) who received bad news, in order to identify the issues related to the perception of bad news given adequately or inadequately. Methods: A cross-sectional study was conducted from January to October 2018, in which parents of newborns with congenital malformations hospitalized in NICUs were interviewed at visiting hours, according to inclusion criteria. The questionnaire had semi-structured questions related to reception of bad news. Analysis of the data was descriptive. Results: 28 mothers and two fathers were interviewed and 16 (53.3%) reported having had at least one bad news in the NICU. Of those, 10 (62.5%) considered appropriate the way in which the news was given. The justifications were: sincerity of the professional, delicacy to give the news, giving hope to the family, use of appropriate words and demonstration of caring about the newborn. Six participants (37.5%) considered inadequate the way of breaking bad news. The reasons were: unpreparedness and lack of knowledge about the child’s case, use of difficult language, haste or anxiety and discouragement of family hope. Most of the news was given by a professional alone, often by a medical resident. Conclusions: The communication of bad news was considered adequate by the parents, although this perception was not unanimous. This study, therefore, indicates that it is necessary to improve the communication of bad news in this NICU. Training professionals can assist in this process.

Background: Epidermolysis bullosa (EB) is characterized by skin fragility and blistering. In Brazil, the diagnosis is usually obtained through immunomapping, which involve skin biopsy procedures. Most recently, Whole Exome Sequencing (WES) has become an important tool for the diagnosis of the subtypes of EB, providing information on prognosis as well as allowing appropriate genetic counseling for the families. Objective: To compare the results of immunomapping and molecular analysis and to describe the characteristics of a Brazilian cohort of patients with EB. Methods: Patients were submitted to clinical evaluation and WES using peripheral blood samples. WES results were compared to those obtained from immunomapping testing by skin biopsy. Results: 67 patients from 60 families were classified: 47 patients with recessive dystrophic EB (DEB), 4 with dominant DEB, 15 with EB simplex (EBS) and 1 with junctional EB (JEB). Novel causative variants were: 10/60 (16%) in COL7A1associated with recessive DEB and 3 other variants in dominant DEB; one homozygous variant in KRT5 and another homozygous variant in PLEC, both associated with EBS. Immunomapping was available for 59 of the 67 patients and the result was concordant with exome results in 37 (62%), discordant in 13 (22%) and inconclusive in 9 patients (15%). Conclusion: Although immunomapping has been useful in services where molecular studies are not available, this invasive method may provide a misdiagnosis or an inconclusive result in more than 1/3 of the patients. This study shows that WES is an effective method to the diagnosis and genetic counseling of EB patients.