FANCD2 Western blot as a diagnostic tool for Brazilian patients with Fanconi anemia

Fanconi anemia is a rare hereditary disease showing genetic heterogeneity due to a variety of mutations in genes involved in DNA repair pathways, which may lead to different clinical manifestations. Phenotypic variability makes diagnosis difficult based only on clinical manifestations, therefore laboratory tests are necessary. New advances in molecular pathogenesis of this disease led researchers to develop a diagnostic test based on Western blot for FANCD2. The objective of the present study was to determine the efficacy of this method for the diagnosis of 84 Brazilian patients with Fanconi anemia, all of whom tested positive for the diepoxybutane test, and 98 healthy controls. The FANCD2 monoubiquitinated isoform (FANCDS+/FANCD2L-) was not detected in 77 patients (91.7%). In 2 patients (2.4%), there was an absence of both the monoubiquitinated and the non-ubiquitinated proteins (FANCD2S-/FANCD2L-) and 5 patients (5.9%) had both isoforms (FANCD2S+/FANCD2L+). This last phenotype suggests downstream subtypes or mosaicism. All controls were diepoxybutane negative and were also negative on the FANCD2 Western blot. The Western blot for FANCD2 presented a sensitivity of 94% (79/84) and specificity of 100% (98/98). This method was confirmed as an efficient approach to screen Brazilian patients with deleterious mutations on FANCD2 (FANCD2S-/FANCD2L-) or other upstream genes of the FA/BRCA pathway (FANCDS+/FANCD2L-), to confirm the chromosome breakage test and to classify patients according to the level of FA/BRCA pathway defects. However, patients showing both FANCD2 isoforms (FANCD2S+/FANCD2L+) require additional studies to confirm mutations on downstream Fanconi anemia genes or the presence of mosaicism.

Cell cycle synchronization and BrdU incorporation as a tool to study the possible selective elimination of ErbB1 gene in the micronuclei in A549 cells

Lung cancer often exhibits molecular changes, such as the overexpression of the ErbB1 gene that encodes epidermal growth factor receptor (EGFR). ErbB1 amplification and mutation are associated with tumor aggressiveness and low response to therapy. The aim of the present study was to design a schedule to synchronize the cell cycle of A549 cell line (a non-small cell lung cancer) and to analyze the possible association between the micronuclei (MNs) and the extrusion of ErbB1 gene extra-copies. After double blocking, by the process of fetal bovine serum deprivation and vincristine treatment, MNs formation was monitored with 5-bromo-2-deoxyuridine (BrdU) incorporation, which is an S-phase marker. Statistical analyses allowed us to infer that MNs may arise both in mitosis as well as in interphase. The MNs were able to replicate their DNA and this process seemed to be non-synchronous with the main cell nuclei. The presence of ErbB1 gene in the MNs was evaluated by fluorescent in situ hybridization (FISH). ErbB1 sequences were detected in the MNs, but a relation between the MNs formation and extrusion of amplified ErbB1could not be established. The present study sought to elucidate the meaning of MNs formation and its association with the elimination of oncogenes or other amplified sequences from the tumor cells.

Automated static image analysis as a novel tool in describing the physical properties of dietary fiber

Abstract The growing interest in the usage of dietary fiber in food has caused the need to provide precise tools for describing its physical properties. This research examined two dietary fibers from oats and beets, respectively, in variable particle sizes. The application of automated static image analysis for describing the hydration properties and particle size distribution of dietary fiber was analyzed. Conventional tests for water holding capacity (WHC) were conducted. The particles were measured at two points: dry and after water soaking. The most significant water holding capacity (7.00 g water/g solid) was achieved by the smaller sized oat fiber. Conversely, the water holding capacity was highest (4.20 g water/g solid) in larger sized beet fiber. There was evidence for water absorption increasing with a decrease in particle size in regards to the same fiber source. Very strong correlations were drawn between particle shape parameters, such as fiber length, straightness, width and hydration properties measured conventionally. The regression analysis provided the opportunity to estimate whether the automated static image analysis method could be an efficient tool in describing the hydration properties of dietary fiber. The application of the method was validated using mathematical model which was verified in comparison to conventional WHC measurement results.

A Project Portfolio Tool for Forecasting Small Projects Profitability

The case company in this study is a large industrial engineering company whose business is largely based on delivering a wide-range of engineering projects. The aim of this study is to create and develop a fairly simple Excel-based tool for the sales department. The tool’s main function is to estimate and visualize the profitability of various small projects. The study also aims to find out other possible and more long-term solutions for tackling the problem in the future. The study is highly constructive and descriptive as it focuses on the development task and in the creation of a new operating model. The developed tool focuses on estimating the profitability of the small orders of the selected project portfolio currently on the bidding-phase (prospects) and will help the case company in the monthly reporting of sales figures. The tool will analyse the profitability of a certain project by calculating its fixed and variable costs, then further the gross margin and operating profit. The bidding phase of small project is a phase that has not been covered fully by the existing tools within the case company. The project portfolio tool can be taken into use immediately within the case company and it will provide fairly accurate estimate of the profitability figures of the recently sold small projects.

Review of investment strategy, portfolio management, and scorecard based portfolio selection tool for direct property investments in Finland

The lack of research of private real estate is a well-known problem. Earlier studies have mostly concentrated on the USA or the UK. Therefore, this master thesis offers more information about the performance and risk associated with private real estate investments in Nordic countries, but especially in Finland. The structure of this master thesis is divided into two independent sections based on the research questions. In first section, database analysis is performed to assess risk-return ratio of direct real estate investment for Nordic countries. Risk-return ratios are also assessed for different property sectors and economic regions. Finally, review of diversification strategies based on property sectors and economic regions is performed. However, standard deviation itself is not usually sufficient method to evaluate riskiness of private real estate. There is demand for more explicit assessment of property risk. One solution is property risk scoring. In second section risk scorecard based tool is built to make different real estate comparable in terms of risk. In order to do this, nine real estate professionals were interviewed to enhance the structure of theory-based risk scorecard and to assess weights for different risk factors.

Automated UI testing. WBCT, a computer-automated user test environment tool.

Today, the user experience and usability in software application are becoming a major design issue due to the adaptation of many processes using new technologies. Therefore, the study of the user experience and usability might be included in every software development project and, thus, they should be tested to get traceable results. As a result of different testing methods to evaluate the concepts, a non-expert on the topic might have doubts on which option he/she should opt for and how to interpret the outcomes of the process. This work aims to create a process to ease the whole testing methodology based on the process created by Seffah et al. and a supporting software tool to follow the procedure of these testing methods for the user experience and usability.

Dialogue journal writing: a tool for critical reflection in the adult ESL learner

This study attempted to determine whether or not dialogue journal writing encouraged critical reflection in the adult ESL (English as a Second Language) learner. According to research in adult education and anecdotal evidence, the process ofdialogue journal writing can facilitate critical reflection in the adult learner. However, little research has been conducted to examine whether or not journal writing can facilitate critical reflection in the second language learner. As a result, ten low-intermediate level adult ESL students from Brock University's Intensive English Language Programme participated in a dialogue journal writing programme in their writing class. The participants wrote journal entries over a 10-week period, and were interviewed once throughout the process to determine their perceptions ofthe journal writing experience. They also were observed by the researcher throughout the journal writing sessions to establish whether any behaviours or intrusions might affect the participants' writing processes. After the content ofthe journals and the interviews, and the observations made by the researcher were analysed, it was confirmed that, for these participants, dialogue journal writing did not necessarily encourage critical reflection. Moreover, the participants' perceptions ofjournal writing were that it helped them to practise the syntax, vocabulary, and rhetorical patterns ofEnglish; nevertheless, it did not foster critical reflection or thinking.

Histogram filtering as a tool in variational Monte Carlo optimization

Optimization of wave functions in quantum Monte Carlo is a difficult task because the statistical uncertainty inherent to the technique makes the absolute determination of the global minimum difficult. To optimize these wave functions we generate a large number of possible minima using many independently generated Monte Carlo ensembles and perform a conjugate gradient optimization. Then we construct histograms of the resulting nominally optimal parameter sets and "filter" them to identify which parameter sets "go together" to generate a local minimum. We follow with correlated-sampling verification runs to find the global minimum. We illustrate this technique for variance and variational energy optimization for a variety of wave functions for small systellls. For such optimized wave functions we calculate the variational energy and variance as well as various non-differential properties. The optimizations are either on par with or superior to determinations in the literature. Furthermore, we show that this technique is sufficiently robust that for molecules one may determine the optimal geometry at tIle same time as one optimizes the variational energy.

Ties From My Father: Personal Narrative as a Tool for Engaging Teenagers and Social Service Practitioners

The purpose of this project is to provide social service practitioners with tools and perspectives to engage young people in a process of developing and connecting with their own personal narratives, and storytelling with others. This project extensively reviews the literature to explore Why Story, What Is Story, Future Directions of Story, and Challenges of Story. Anchoring this exploration is Freire’s (1970/2000) intentional uncovering and decoding. Taking a phenomenological approach, I draw additionally on Brookfield’s (1995) critical reflection; Delgado (1989) and McLaren (1998) for subversive narrative; and Robin (2008) and Sadik (2008) for digital storytelling. The recommendations provided within this project include a practical model built upon Baxter Magolda and King’s (2004) process towards self-authorship for engaging an exercise of storytelling that is accessible to practitioners and young people alike. A personal narrative that aims to help connect lived experience with the theoretical content underscores this project. I call for social service practitioners to engage their own personal narratives in an inclusive and purposeful storytelling method that enhances their ability to help the young people they serve develop and share their stories.

AutoFACT: An Automatic Functional Annotation and Classification Tool

Affiliation: Centre Robert-Cedergren de l'Université de Montréal en bio-informatique et génomique & Département de biochimie, Université de Montréal