Percepções de enfermeiras sobre a assistência realizada ao recém-nascido com icterícia neonatal / Nurses perceptions on assistance performed to newborns with neonatal jaundice / Percepciones de enfermeras en la asistencia realizada al recién nacido con icterícia neonatal

Objetivo: Descrever as percepções de enfermeiras sobre a assistência realizada ao recém-nascido com icterícia neonatal. Método: Estudo descritivo, qualitativo, desenvolvido com 18 enfermeiras de uma Maternidade Pública de alta complexidade localizada na cidade de Belém, Pará. Os dados foram produzidos por meio de entrevista individual, utilizando-se roteiro semiestruturado, posteriormente submetidos à análise de conteúdo temática. Resultados: Assim, a análise propiciou a organização de três categorias temáticas, denominadas: "O conhecimento de enfermeiras sobre icterícia neonatal", "A importância da educação continuada sobre icterícia neonatal" e "A necessidade de elaboração de protocolo assistencial sobre icterícia neonatal". Conclusão: Por meio do estudo, identificou-se as percepções de enfermeiras sobre a icterícia neonatal, demonstrando que possuíam conhecimento sobre o distúrbio, suas complicações, assistência adequada e importância de orientação da família, porém também mostraram a ausência de atividades de educação permanente, visando a atualização dos enfermeiros, e de um protocolo assistencial que pudesse subsidiar a assistência prestada. (AU)

Objective: To describe nurses' perceptions do care provided to newborns with neonatal jaundice. Methods: A descriptive, qualitative study, developed with 18 nurses from a highly complex Public Maternity Hospital located at Belém, Pará. The data were produced through individual interviews, using a semi-structured script, later submitted to thematic content analysis. Results: Thus, the analysis led to the organization of three thematic categories, called: "Nurses' knowledge about neonatal jaundice", "The importance of continuing education on neonatal jaundice" and "The need to elaborate a care protocol on neonatal jaundice". Conclusion: Through the study, nurses' perceptions of neonatal jaundice were identified, demonstrating that they had knowledge about the disorder, its complications, adequate assistance and the importance of family guidance, but also showed the absence of permanent education activities, aimed at updating nurses, and a care protocol that could subsidize the care provided. (AU)

Objetivo: Describir las percepciones de las enfermeras sobre la atención brindada a los recién nacidos con ictericia neonatal. Método: Estudio descriptivo, cualitativo, desarrollado con 18 enfermeras de un Hospital de maternidad público alta complejidad ubicado en la ciudad de Belém, Pará. Los datos fueron producidos a través de entrevistas individuales, utilizando un guión semiestructurado, luego sometido a análisis de contenido temático. Resultados: Por lo tanto, el análisis condujo a la organización de tres categorías temáticas, llamadas: "Conocimiento de las enfermeras sobre la ictericia neonatal", "La importancia de la educación continua sobre la ictericia neonatal" y "La necesidad de elaborar un protocolo de atención sobre la ictericia neonatal". Conclusión: A través del estudio, se identificaron las percepciones de las enfermeras sobre la ictericia neonatal, demostrando que tenían conocimiento sobre el trastorno, sus complicaciones, asistencia adecuada y la importancia de la orientación familiar, pero también mostraron la ausencia de actividades de educación permanente, destinado a actualizar a las enfermeras y un protocolo de atención que podría subsidiar la atención brindada. (AU)

Iodine­131 metabolic radiotherapy leads to cell death and genomic alterations through NIS overexpression on cholangiocarcinoma.

Cholangiocarcinoma (CC) is an aggressive liver tumor with limited therapeutic options. Natrium­iodide symporter (NIS) mediates the uptake of iodine by the thyroid, representing a key component in metabolic radiotherapy using iodine­131 (131I) for the treatment of thyroid cancer. NIS expression is increased in CC, providing the opportunity for a novel therapeutic approach for this type of tumor. Thus, in this study, we aimed to evaluate therapeutic efficacy of 131I in two human CC cell lines. Uptake experiments analyzed the 131I uptake profiles of the tumor cell lines under study. The cells were irradiated with various doses of 131I to evaluate and characterize the effects of metabolic radiotherapy. NIS protein expression was assessed by immunofluorescence methods. Cell survival was evaluated by clonogenic assay and flow cytometry was used to assess cell viability, and the type of death and alterations in the cell cycle. The genomic and epigenetic characterization of both CC cells was performed before and after irradiation. NIS gene expression was evaluated in the CC cells by RT­qPCR. The results revealed that CC cells had a higher expression of NIS. 131I induced a decrease in cell survival in a dose­dependent manner. With the increasing irradiation dose, a decrease in cell viability was observed, with a consequent increase in cell death by initial apoptosis. Karyotype and array comparative genomic hybridization (aCGH) analyses revealed that both CC cell lines were near­triploid with several numerical and structural chromosomal rearrangements. NIS gene expression was increased in the TFK­1 and HuCCT1 cells in a time­dependent manner. On the whole, the findings of this study demonstrate that the presence of NIS in cholangiocarcinoma cell lines is crucial for the decreased cell viability and survival observed following the exposure of cholangiocarcinoma cells to 131I.

(Cyto)genomic and epigenetic characterization of BICR 10 cell line and three new established primary human head and neck squamous cell carcinoma cultures.

BACKGROUND: Head and neck squamous cell carcinoma cell lines are useful preclinical models to understand the molecular processes underlying the development of such tumors, and to establish targeted therapies. OBJECTIVE: We performed a comprehensive (cyto)genomic and epigenetic characterization of three new established primary human head and neck squamous cell carcinoma cultures and an established, yet undercharacterized cell line: BICR 10. METHODS: Karyotyping, multiplex fluorescence in situ hybridization, array comparative genomic hybridization and methylation-specific multiplex ligation-dependent probe amplification were applied. RESULTS: The three primary cultures turned out to be a near-triploid and BICR 10 near-diploid. Banding and molecular cytogenetic analysis revealed non-random numerical and structural aberrations. The most common rearrangements identified in BICR 10 cell line were non-complex derivatives of reciprocal translocations, in which the breakpoints often appeared in centromeric/near-centromeric regions. In the 3 primary cell cultures the most common rearrangements observed were iso- and derivatives chromosomes derived from translocations. Overall, gains of 7p, 8q and losses at 3p, 8p, 9p, 18q and Xp were present in all four studied samples. Among the analyzed genes, BICR 10 cell line exhibited enhanced methylation of gene promoter; however, in all studied samples PAX5, WT1 and GATA5 were methylated. CONCLUSION: The here reported comprehensive characterization of BICR 10 cell line and the new established cultures enriches the resources available for head and neck cancer research, especially for testing therapeutic agents.

Cytogenetic, genomic, and epigenetic characterization of the HSC-3 tongue cell line with lymph node metastasis.

Oral carcinoma develops from squamous epithelial cells by the acquisition of multiple (epi) genetic alterations that target different genes and molecular pathways. Herein, we performed a comprehensive genomic and epigenetic characterization of the HSC-3 cell line through karyotyping, multicolor fluorescence in situ hybridization, array comparative genomic hybridization, and methylation-specific multiplex ligation-dependent probe amplification. HSC-3 turned out to be a near-triploid cell line with a modal number of 61 chromosomes. Banding and molecular cytogenetic analyses revealed that nonrandom gains of chromosomal segments occurred more frequently than losses. Overall, gains of chromosome 1, 3q, 5p, 7p, 8q, 9q, 10, 11p, 11q13, 12, 13, 14, 17, 18p, 20, Yp, and Xq were observed. The largest region affected by copy number loss was observed at chromosome 18q. Several of the observed genomic imbalances and their mapped genes were already associated with oral carcinoma and/or adverse prognosis, invasion, and metastasis in cancer. The most common rearrangements observed were translocations in the centromeric/near-centromeric regions. RARB, ESR1, and CADM1 genes were methylated and showed copy number losses, whereas TP73 and GATA5 presented with methylation and copy number gains. Thus, the current study presents a comprehensive characterization of the HSC-3 cell line; the use of this cell line may contribute to enriching the resources available for oral cancer research, especially for the testing of therapeutic agents.

A percepção das puérperas frente à atuação do enfermeiro na promoção do aleitamento materno em um Hospital amigo da Criança do Estado do Pará / The perception of the women who have recently given birth regarding the actuation of the nurse on the breastfeeding promotion in a baby-friendly hospital initiative of Pará state

Objetivo: analisar a percepção das puérperas frente à atuação do enfermeiro na promoção do aleitamento maternoem um hospital amigo da criança do Estado do Pará. Metodologia: estudo exploratório com abordagem qualitativatendo como participantes da pesquisa puérperas internadas no alojamento conjunto da Fundação Santa Casa deMisericórdia do Pará. Atenderam aos critérios de inclusão 17 participantes. A coleta de dados foi por meio de entrevistasemiestruturada com perguntas abertas. Os profissionais foram identificados por letra e por números referente aordem de entrevista realizada. Resultado: foi utilizada a técnica de análise de conteúdo onde o eixo temático geroucomo categoria teórica: a atuação do enfermeiro na promoção do aleitamento; como categoria empírica: orientaçõessobre aleitamento no alojamento conjunto, pelo enfermeiro e como unidades de análises: a maioria das puérperasnão recebeu orientação no pré-natal e receberam orientações superficiais no hospital. Discussão: inúmeras são asdi?culdades encontradas pelas puérperas na prática da amamentação, dentre elas destacam-se: falhas no processo deorientação e falta de incentivo à amamentação desde o pré-natal. Tais fatores isolados ou associados fazem com queas lactantes não amamentem seus ?lhos até o mínimo de tempo de seis meses proposto pela OMS. Essa orientaçãoe incentivo a amamentação não está ocorrendo segundo a pesquisa. Conclusão: conclui-se que ainda existemfalhas no que se diz respeito a promoção ao aleitamento materno, devido a ocupação do profissional enfermeiroem atividades administrativas e pouco interesse em participar de capacitações sobre aleitamento. Entretanto, cabeao enfermeiro promover o aleitamento materno, oferecer suporte e apoio durante todo o período da gravidez, parto,puerpério. É importante enfatizar que os gestores, enfermeiros e outros profissionais de saúde precisam trabalharintegrados, fazendo valer a interdisciplinaridade, onde todos os saberes são utilizados para um único fim, a promoçãodo aleitamento materno.

Objective: Analyses of the perception of the women who have recently given birth regarding the actuation of thenurse on the breastfeeding promotion in a Baby-friendly hospital initiative of Pará State. Methodology: Exploratorystudy with qualitative approach having as participants of the research inmate women who have recently given birthin the accommodation of the Fundação Santa Casa de Misericórdia do Pará. The inclusion criterion counted with 17participants. The data collecting was by means of semi-structured interview with open questions. The professionalswere identified by letters and reference numbers in accordance to order of the interview. Result: The data wasanalyzed utilizing the technics of content analyzes, in which the main theme produced as theoretical category:The Nurse action on the breastfeeding promotion; as empiric category: Breastfeeding orientation at the ensembleaccommodations by the nurse and as analyses units: Most of the women who have recently given birth did notreceive a prenatal orientation. They received a superficial orientation in the hospital. Discussion: numerous arethe difficulties encountered by mothers in breastfeeding, among them stand out flaws in the orientation processand lack of incentive to breastfeeding from prenatal care. These factors alone or associated cause breastfeedingshould not breastfeed their children until the minimum time of six months proposed by the WHO. This guidanceand encouragement of breastfeeding is not going according to the survey. Conclusion: The conclusion is thatthereare yet faults regarding the breastfeeding promotion due the occupation of the nurse in administrative activities andlittle interest about participate of breastfeeding promotion courses. However is obligation of the nurse promoting thebreastfeeding, gives support during all the pregnancy time, childbirth and puerperium. It is important to say that themanagers, nurses and others healthy professionals need to work together to enforce the inter-dicipline of the team inwhich all the learning are used to an unique objective that is the promotion of breastfeeding.

Copy number variants prioritization after array-CGH analysis - a cohort of 1000 patients.

BACKGROUND: Array-based comparative genomic hybridization has been assumed to be the first genetic test offered to detect genomic imbalances in patients with unexplained intellectual disability with or without dysmorphisms, multiple congenital anomalies, learning difficulties and autism spectrum disorders. Our study contributes to the genotype/phenotype correlation with the delineation of laboratory criteria which help to classify the different copy number variants (CNVs) detected. We clustered our findings into five classes ranging from an imbalance detected in a microdeletion/duplication syndrome region (class I) to imbalances that had previously been reported in normal subjects in the Database of Genomic Variants (DGV) and thus considered common variants (class IV). RESULTS: All the analyzed 1000 patients had at least one CNV independently of its clinical significance. Most of them, as expected, were alterations already reported in the DGV for normal individuals (class IV) or without known coding genes (class III-B). In approximately 14 % of the patients an imbalance involving known coding genes, but with partially overlapping or low frequency of CNVs described in the DGV was identified (class IIIA). In 10.4 % of the patients a pathogenic CNV that explained the phenotype was identified consisting of: 40 class I imbalances, 44 class II de novo imbalances and 21 class II X-chromosome imbalances in male patients. In 20 % of the patients a familial pathogenic or potentially pathogenic CNV, consisting of inherited class II imbalances, was identified that implied a family evaluation by the clinical geneticists. CONCLUSIONS: As this interpretation can be sometimes difficult, particularly if it is not possible to study the parents, using the proposed classification we were able to prioritize the multiple imbalances that are identified in each patient without immediately having to classify them as pathogenic or benign.

Interstitial 287 kb deletion of 4p16.3 including FGFRL1 gene associated with language impairment and overgrowth.

We report a male patient with developmental delay carrying an interstitial 4p16.3 deletion of 287 kb, disclosed by oligo array-CGH and inherited from his father with a similar but milder phenotype. This deletion is distal to the Wolf-Hirschhorn syndrome critical regions, but includes the FGFRL1 gene proposed to be a plausible candidate for part of the craniofacial characteristics of Wolf-Hirschhorn syndrome patients. However, the proband lacks the typical facial appearance of the syndrome, but exhibits overgrowth, dysfunction of temporomandibular articulation and a bicuspid aortic valve. Given the pattern of expression of the fibroblast growth factor receptor-like 1 and its involvement in bone and cartilage formation as well as in heart valve morphogenesis, we discuss the impact of its haploinsufficiency in the phenotype.

Three unusual but cytogenetically similar cases with up to five different cell lines involving structural and numerical abnormalities of chromosome 18.

We report two prenatal and two postnatal diagnosed cases (the latter monozygotic twins) with ring chromosomes after GTG banding. All four, de novo r(18), cases turned out to be more complex after application of high-resolution molecular cytogenetics techniques such as use of fluorescence in situ hybridization, centromeric probes, multicolor banding, and locus-specific probes for chromosome 18. All four cases are mosaics involving chromosome 18 in up to five different cell lines, including 46,r(18); 46,dr(18); 47,r(18)x2; 46,mar(18); and 45,-18. Mosaicism sharing both numerical and structural anomalies is rare, but rings often appear as mosaics due to their mitotic instability. Overall, patients with ring chromosome 18 usually share clinical features of 18q- syndrome and, less frequently, those of 18p- syndrome. High-resolution molecular cytogenetics techniques were useful in the characterization of cases with dynamic mosaicism and in establishing the relationship between loss or gain of chromosomal material and the phenotype.