Detection of ALK fusion transcripts in FFPE lung cancer samples by NanoString technology

Background: ALK-rearranged lung cancers exhibit specific pathologic and clinical features and are responsive to anti-ALK therapies. Therefore, the detection of ALK-rearrangement is fundamental for personalized lung cancer therapy. Recently, new molecular techniques, such as NanoString nCounter, have been developed to detect ALK fusions with more accuracy and sensitivity. Methods: In the present study, we intended to validate a NanoString nCounter ALK-fusion panel in routine biopsies of FFPE lung cancer patients. A total of 43 samples were analyzed, 13 ALK-positive and 30 ALK-negative, as previously detected by FISH and/or immunohistochemistry. Results: The NanoString panel detected the presence of the EML4-ALK, KIF5B-ALK and TFG-ALK fusion variants. We observed that all the 13 ALK-positive cases exhibited genetic aberrations by the NanoString methodology. Namely, six cases (46.15%) presented EML-ALK variant 1, two (15.38%) presented EML-ALK variant 2, two (15.38%) presented EML-ALK variant 3a, and three (23.07%) exhibited no variant but presented unbalanced expression between 5'/3' exons, similar to other positive samples. Importantly, for all these analyses, the initial input of RNA was 100 ng, and some cases displayed poor RNA quality measurements. Conclusions: In this study, we reported the great utility of NanoString technology in the assessment of ALK fusions in routine lung biopsies of FFPE specimens.This study was partially funded by FINEP (MCTI/FINEP/MS/SCTIE/DECIT), Brazil. BIOPLAT (1302/13).info:eu-repo/semantics/publishedVersio

Prevalence of enamel defects and associated risk factors in both dentitions in preterm and full term born children

OBJECTIVES: The aim of this study was to evaluate the prevalence of enamel defects and their risk factors on primary and permanent dentitions of prematurely born children and full-term born children born at Regional Hospital of Asa Sul, Brasília, DF, Brazil. MATERIAL AND METHODS: Eighty 5-10-year-old children of both genders were examined, being 40 born prematurely (G1) and 40 born full term (G2). The demographic variables, medical history and oral health behaviors were retrieved using a questionnaire and data obtained from clinical examination were recorded. The teeth were examined and the presence of enamel defects was diagnosed according to the DDE Index and registered in odontograms. Subsequently, the defects were categorized in four groups according to one of the criteria proposed in 1992 by the FDI Commission on Oral Health, Research and Epidemiology. Kruskal-Wallis, Chi-square, Kappa, Mann-Whitney tests and logistic regression were used for statistical analysis. RESULTS: 75% of total sample had enamel defects. There was a major prevalence of hypoplasia of the enamel in G1 (p<0.001). There was a significant relationship between low weight and presence of the imperfections on the enamel in G1 on the primary dentition. The logistic regression model showed that the other risk factors such as monthly per capita family income, educational level, dietary and hygiene habits, fluoride exposure, trauma, and diseases were not associated with enamel defects and caries. CONCLUSIONS: Pre-term labor can be a predisposing factor for the presence of the enamel hypoplasia in the primary dentition

Fatores preditivos para evolução insatisfatória de quadris instáveis na paralisia cerebral submetidos à reconstrução articular Predictive factors for unsatisfactory evolution of unstable hips in brain palsy submitted to joint reconstruction

OBJETIVO: Avaliar os possíveis fatores prognósticos que indicariam a evolução insatisfatória do tratamento da subluxação e/ou luxação espástica do quadril nos pacientes portadores de Paralisia Cerebral submetidos à reconstrução cirúrgica, mediante liberação de partes moles, adutores e íliopsoas, e a osteotomia pélvica de Dega associada a osteotomia femoral subtrocantérica, varizante de rotação externa e de encurtamento. CASUÍSTICA E MÉTODOS: Foram analisados retrospectivamente de Outubro de 1994 a Agosto de 2005, clínica e radiograficamente 58 pacientes (78 quadris) com subluxação/luxação espástica submetidos à reconstrução cirúrgica. O seguimento mínimo foi de 12 meses e o médio de 53,6 meses. Os quadris foram classificados em satisfatórios e insatisfatórios de acordo com a análise do índice acetabular (IA) e índice de Reimers (IR) pós-operatório final. Foram analisadas estatisticamente as variáveis: idade do paciente na época da cirurgia, tempo de seguimento pós-operatório e os parâmetros radiográficos IA, IR, ângulo cérvico-diafisário (CD) nos períodos pré-operatório, pós-operatório imediato e final. RESULTADOS: Dos 78 quadris analisados, 13 foram classificados como insatisfatórios por apresentarem IA pós-operatório final maior ou igual a 20 graus e IR pós-operatório final maior ou igual 25% e após análise estatística dos dados foi observada significância apenas no IA pós-operatório imediato, IA pós-operatório final, IR pós-operatório final e CD pós-operatório final. CONCLUSÃO: Não há variável que possa predizer evolução insatisfatória do pós-operatório da reconstrução articular nos casos de sub e/ou luxação espástica do quadril, porém evidenciou-se que maior empenho deve ser aplicado na correção do índice acetabular no ato cirúrgico.<br>OBJECTIVE: To evaluate potential prognostic factors that would indicate an unsatisfactory treatment evolution of hip sub-dislocation and/or spastic dislocation in patients with Brain Palsy submitted to surgical reconstruction, upon soft parts, adductors and iliopsoas release, and Dega’s pelvic osteotomy combined to outer-rotation and shortening varusing sub-trochanteric femoral osteotomy. CASE SERIES AND METHODS: 58 patients (78 hips) with sub-dislocation/ spastic dislocation submitted to surgical reconstruction were retrospectively assessed, both clinically and by X-ray studies, from October 1994 to August 2005. The minimum follow-up time was 12 months and the average was 53.6 months. Hips were classified into satisfactory and unsatisfactory according to the analysis of late postoperative acetabular index (AI) and Reimers index (RI). The following variables were statistically analyzed: patient’s age at surgery time, postoperative follow-up period, and AI, RI X-ray parameters, cervicodiaphyseal angle (CD) at preoperative, early postoperative and late postoperative periods. RESULTS: From the 78 hips assessed, 13 were classified as unsatisfactory because they presented a late postoperative AI higher or equal to 20 degrees, and a late postoperative RI higher or equal to 25%, and, after the statistical analysis of data, significance was reported only at early postoperative AI, late postoperative AI, late postoperative RI, and late postoperative CD. CONCLUSION: There is no variable that can predict an unsatisfactory postoperative evolution on joint reconstruction in cases of hip sub-dislocation and/ or spastic dislocation, but it was evidenced that stronger efforts must be employed when correcting the acetabular index during a surgical procedure

Toxinas killer e produção de enzimas por Candida albicans isoladas da mucosa bucal de pacientes com câncer Killer toxin sensitiviy and production of enzymes by Candida albicans isolated from the oral mucosa of patients with cancer

Infecções oportunistas da cavidade bucal são primariamente causadas por fungos do gênero Candida e freqüentemente ocorrem em pacientes com câncer que estão sobtratamento quimioterápico e antibacteriano. De 44 amostras coletadas da mucosa oral de pacientes com câncer, observou-se o isolamento de 25 leveduras do gênero Candida em cultivo realizado em ágar Sabouraud-dextrose. Foram identificados Candida albicans em 24 (96%) isolados e C. krusei em 1 (4%). As características fenotípicas das amostras de Candida albicans mostraram que todos os isolados foram fortemente proteolíticos, capazes de produzir fosfolipases e possuíam os biotipos caracterizados como 811(95,8%) e 511 (4,2%) em relação a susceptibilidade às toxinas killer.<br>Opportunistic infections of the oral cavity are primarily caused by Candida and frequently occur in patients with cancer who are undergoing chemotherapy and antibiotic treatment. Of the specimens received from the oral mucosa of 44 patients with cancer, 25 (56.8%) yielded Candida on culture in Sabouraud agar. Twenty four of these isolates were identified as C. albicans (96%) and 1 as C. krusei (4%). The phenotypic characteristics of these isolates showed that all of them were strongly proteolytic, had a high ability to produce phospholipase, and presented the byotypes characterized as 811 (95.8%) and 511 (4.2%) in terms of susceptibility to killer toxins