Expressão dos genes Braf e C-Kit e sua correlação com fatores prognósticos em melanomas cutâneos

Resumo: Dados clinicos e histologicos de melanomas cutaneos primarios fornecem informacoes prognosticas uteis, porem o curso clinico de determinada lesao e imprevisivel. Fatores adicionais para prever sua evolucao sao necessarios e tecnicas de biologia molecular permitem a identificacao de marcadores moleculares que podem ter valor prognostico em melanomas. O presente estudo avaliou mutacoes BRAF e c-Kit em 96 especimens cirurgicos de melanomas cutaneos primarios e 15 lesoes metastaticas correspondentes em uma serie de pacientes brasileiros, atraves da tecnica TaqMan Real-Time polymerase chain reaction (PCR) e correlacionou estes dados com fatores prognosticos clinicos e anatomopatologicos atualmente conhecidos. Esta analise nao identificou mutacoes no gene c-Kit e mostrou uma frequencia baixa de mutacoes BRAF em melanomas cutaneos primarios (39%) e metastaticos (40%). Essas mutacoes ocorreram em estagio inicial durante a progressao da neoplasia e nao estiveram envolvidas na transicao de melanomas finos (.1mm) para grossos (>1mm). Essas mutacoes estavam presentes em pacientes mais jovens e se correlacionaram com o padrao de exposicao solar dos pacientes estudados, mas nao houve correlacao com nenhum fator prognostico histologico ou sobrevida global dos mesmos. A identificacao de ambas as mutacoes BRAF e c- kit nao servem como indicadores de prognostico na populacao brasileira. Alem disso, a baixa frequencia de mutacoes BRAF encontrada neste estudo nos faz questionar se esta mutacao realmente tem um papel chave na patogenese do melanoma

Sebaceous carcinoma in a mature teratoma of the ovary

The finding of a sebaceous carcinoma in a mature teratoma is rare in human pathology, with fewer than 10 cases currently reported in the literature. In this article, we report a case of sebaceous carcinoma in a mature teratoma of the ovary in a 59-year-old patient and discuss its histological findings

A new high-performance proton-conducting electrolyte for next-generation solid oxide fuel cells

N. Radenahmad and A. Afif are thankful to Universiti Brunei Darussalam for sponsoring the UBD graduate scholarship to perform Ph.D. work at Brunei Darussalam. The authors are also grateful to the late Professor Sten Eriksson for supporting a summer scholarship for NR to accomplish a part of this work at Chalmers University of Technology, Sweden. This work was also partially funded by research grant UBD/OVAORI/CRGWG(006)/161201.Conventional solid oxide fuel cells (SOFCs) are operable at high temperatures (700 – 1,000 °C) with the most commonly used electrolyte, yttria‐stabilized zirconia (YSZ). SOFC R&D activities have thus been carried out to reduce the SOFC operating temperature. At intermediate temperatures (400 – 700 °C), barium cerate (BaCeO3) and barium zirconate (BaZrO3) are good candidates for use as proton‐conducting electrolytes due to their promising electrochemical characteristics. Here, we combined two widely studied proton‐conducting materials with two dopants and discovered an attractive composition for the investigation of electrochemical behaviors. Ba0.9Sr0.1Ce0.5Zr0.35Y0.1Sm0.05O3‐δδ(BSCZYSm), a perovskite‐type polycrystalline material, has shown very promising properties to be used as proton‐conducting electrolytes at intermediate temperature range. BSCZYSm shows a high proton conductivity of 4.167×10−3 S cm−1 in a wet argon atmosphere and peak power density of 581.7 mW cm−2 in Ni‐BSCZYSm | BSCZYSm | BSCF cell arrangement at 700 °C, which is one of the highest in comparison to proton‐conducting electrolyte‐based fuel cells reported till now.PostprintPeer reviewe

Sebaceous carcinoma in a mature teratoma of the ovary

The finding of a sebaceous carcinoma in a mature teratoma is rare in human pathology, with fewer than 10 cases currently reported in the literature. In this article, we report a case of sebaceous carcinoma in a mature teratoma of the ovary in a 59-year-old patient and discuss its histological findings

Breast implant-associated anaplastic large cell lymphoma: a diagnostic challenge

Breast implant-associated anaplastic large cell lymphoma (BIA-ALCL) is a provisional entity with morphological and immunophenotypic characteristics indistinguishable from ALK-negative anaplastic large cell lymphoma (ALCL). Unlike ALCL, BIA-ALCL arises mainly in association with breast implantation. Diagnostic confirmation of BIA-ALCL can be difficult and associating morphological and pathological hallmarks with flow cytometry and immunohistochemistry can assist in the diagnosis. The objective of this report is to describe a case of BIA-ALCL in which cytological and immunophenotypological analysis using flow cytometry suggested the presence of large CD30-positive cells in the effusion fluid

Clinical profile of 62 cases of sexual differentiation disorders

OBJECTIVE: To report patients with ambiguous genitalia assisted at the State Institute of Diabetes and Endocrinology of Rio de Janeiro, Brazil, in the last five years. METHODS: Retrospective chart review of all cases of ambiguous genitalia, classified according to Danish criteria (1982), who attended follow-up visits in the last five years. The oldest record is from 1981 and the most recent one, 2006. RESULTS: 62 patients with ambiguous genitalia were found: 26 of them assigned as females and 36 as males. The most frequent diagnosis was congenital adrenal hyperplasia (33.9%), followed by syndromic diseases (14.5%) and gonadal dysgenesis (9.7%). The majority of patients with ambiguous genitalia were detected at birth, however, the mean age at the diagnosis was 7.2 years (zero to 42 years). CONCLUSIONS: Genital ambiguity is not a specific disease, but a set of problems that directs the physician to search specific diagnosis. The frequency of this condition depends on the diagnostic criteria used. Adopting amplified criteria in order to diagnose genital ambiguity will increase the possibility of early detention and adequate handling of these patients.OBJETIVO: Descrever o perfil clínico dos casos de distúrbios da diferenciação sexual em acompanhamento no Instituto Estadual de Diabetes e Endocrinologia Luiz Capriglione, no Rio de Janeiro, nos últimos cinco anos. MÉTODOS: Revisão dos prontuários dos pacientes, com o diagnóstico de genitália ambígua em acompanhamento nos últimos cinco anos, segundo os critérios clínicos descritos por Danish, em 1982. O registro mais antigo foi feito em 1981 e o mais recente de junho de 2006. RESULTADOS: Foram encontrados 62 casos de genitália ambígua: 26 com registro do sexo feminino e 36 com registro do sexo masculino. O diagnóstico mais freqüente foi o de hiperplasia congênita de supra-renal (33,9%), seguido de quadros sindrômicos (14,5%) e disgenesias gonadais (9,7%). A média de idade ao diagnóstico foi de 7,2 anos (de zero a 42 anos). CONCLUSÕES: A ambigüidade genital não é uma doença específica, mas um conjunto de alterações que direcionam o clínico a buscar diagnósticos específicos. A freqüência dessa afecção depende dos critérios diagnósticos utilizados. A adoção de critérios amplos aumenta a chance de detecção precoce do quadro bem como de cuidado adequado a crianças com distúrbios da diferenciação sexual.32132

Targeting of CYP2E1 by miRNAs in Alcohol-Induced Intestine Injury

Although binge alcohol-induced gut leakage has been studied extensively in the context of reactive oxygen species-mediated signaling, it was recently revealed that post-transcriptional regulation plays an essential role as well. Ethanol (EtOH)-inducible cytochrome P450-2E1 (CYP2E1), a key enzyme in EtOH metabolism, promotes alcohol-induced hepatic steatosis and inflammatory liver disease, at least in part by mediating changes in intestinal permeability. For instance, gut leakage and elevated intestinal permeability to endotoxins have been shown to be regulated by enhancing CYP2E1 mRNA and CYP2E1 protein levels. Although it is understood that EtOH promotes CYP2E1 induction and activation, the mechanisms that regulate CYP2E1 expression in the context of intestinal damage remain poorly defined. Specific miRNAs, including miR-132, miR-212, miR-378, and miR-552, have been shown to repress the expression of CYP2E1, suggesting that these miRNAs contribute to EtOH-induced intestinal injury. Here, we have shown that CYP2E1 expression is regulated post-transcriptionally through miRNA-mediated degradation, as follows: (1) the RNA-binding protein AU-binding factor 1 (AUF1) binds mature miRNAs, including CYP2E1-targeting miRNAs, and this binding modulates the degradation of corresponding target mRNAs upon EtOH treatment; (2) the serine/threonine kinase mammalian Ste20-like kinase 1 (MST1) mediates oxidative stress-induced phosphorylation of AUF1. Those findings suggest that reactive oxygen species-mediated signaling modulates AUF1/miRNA interaction through MST1-mediated phosphorylation. Thus, our study demonstrates the critical functions of AUF1 phosphorylation by MST1 in the decay of miRNAs targeting CYP2E1, the stabilization of CYP2E1 mRNA in the presence of EtOH, and the relationship of this pathway to subsequent intestinal injury

European bone mineral density loci are also associated with BMD in East-Asian populations

To access publisher full text version of this article. Please click on the hyperlink in Additional Links fieldMost genome-wide association (GWA) studies have focused on populations of European ancestry with limited assessment of the influence of the sequence variants on populations of other ethnicities. To determine whether markers that we have recently shown to associate with Bone Mineral Density (BMD) in Europeans also associate with BMD in East-Asians we analysed 50 markers from 23 genomic loci in samples from Korea (n = 1,397) and two Chinese Hong Kong sample sets (n = 3,869 and n = 785). Through this effort we identified fourteen loci that associated with BMD in East-Asian samples using a false discovery rate (FDR) of 0.05; 1p36 (ZBTB40, P = 4.3×10(-9)), 1p31 (GPR177, P = 0.00012), 3p22 (CTNNB1, P = 0.00013), 4q22 (MEPE, P = 0.0026), 5q14 (MEF2C, P = 1.3×10(-5)), 6q25 (ESR1, P = 0.0011), 7p14 (STARD3NL, P = 0.00025), 7q21 (FLJ42280, P = 0.00017), 8q24 (TNFRSF11B, P = 3.4×10(-5)), 11p15 (SOX6, P = 0.00033), 11q13 (LRP5, P = 0.0033), 13q14 (TNFSF11, P = 7.5×10(-5)), 16q24 (FOXL1, P = 0.0010) and 17q21 (SOST, P = 0.015). Our study marks an early effort towards the challenge of cataloguing bone density variants shared by many ethnicities by testing BMD variants that have been established in Europeans, in East-Asians

Brazilian Oat Cultivars Grown without Pesticides for Use in Agroecologically-Based Production Systems

Abstract Strategies for evaluating oat leaf diseases and using cultivars for pesticide-free growing enable more sustainable managements with food safety. The objectives of this study were to determine the optimal timing for assessing genetic variability of resistance to leaf diseases among Brazilian oat cultivars through analysis of necrotic leaf area; and identify the most suitable cultivars for agroecologically-based production systems through analysis of grain yield and necrotic leaf area using adaptability and stability parameters. The experiment was carried out in Augusto Pestana, RS, Brazil, using a randomized block design with three replications for evaluating 22 Brazilian oat cultivars (recommended and no longer recommended for cultivation) grown under no fungicide applications, from 2015 to 2020. Necrotic leaf area was measured at 60, 75, 90, 105, and 120 days after plant emergence (DAE), using the WinDIAS software (Copyright 2012, Delta-T Devices Limited); grain yield was determined after harvesting grains with approximately 15% moisture. Regarding the necrotic leaf area analysis, the highest genetic variability of resistance to leaf diseases in the Brazilian oat cultivars evaluated was observed between 90 and 105 DAE. Regarding grain yield and necrotic leaf area, the oat cultivars URS Altiva, URS Charrua, UPFPS Farroupilha, and UPFA Gauderia stood out as the most suitable genetic resources for agroecologically-based production systems