Molecular Characteristics of Neuroblastoma with Special Reference to Novel Prognostic Factors and Diagnostic Applications

Molecular Characteristics of Neuroblastoma with Special Reference to Novel Prognostic Factors and Diagnostic Applications Department of Medical Biochemistry and Genetics Annales Universitatis Turkuensis, Medica-Odontologica, 2009, Turku, Finland Painosalama Oy, Turku, Finland 2009 Background: Neuroblastoma, which is the most common and extensively studied childhood solid cancer, shows a great clinical and biological heterogeneity. Most of the neuroblastoma patients older than one year have poor prognosis despite intensive therapies. The hallmark of neuroblastoma, biological heterogeneity, has hindered the discovery of prognostic tumour markers. At present, few molecular markers, such as MYCN oncogene status, have been adopted into clinical practice. Aims: The aim of the study was to improve the current prognostic methodology of neuroblastoma, especially by taking cognizance of the biological heterogeneity of neuroblastoma. Furthermore, unravelling novel molecular characteristics which associate with neuroblastoma tumour progression and cell differentiation was an additional objective. Results: A new strictly defined selection of neuroblastoma tumour spots of highest proliferation activity, hotspots, appeared to be representative and reliable in an analysis of MYCN amplification status using a chromogenic in situ hybridization technique (CISH). Based on the hotspot tumour tissue microarray immunohistochemistry and high-resolution oligo-array-based comparative genomic hybridization, which was integrated with gene expression and in silico analysis of existing transcriptomics, a polysialylated neural cell adhesion molecule (NCAM) and poorly characterized amplicon at 12q24.31 were discovered to associate with outcome. In addition, we found that a previously considered new neuroblastoma treatment target, the mutated c-kit receptor, was not mutated in neuroblastoma samples. Conclusions: Our studies indicate polysialylated NCAM and 12q24.31 amplicon to be new molecular markers with important value in prognostic evaluation of neuroblastoma. Moreover, the presented hotspot tumour tissue microarray method together with the CISH technique of the MYCN oncogene copy number is directly applicable to clinical use. Key words: neuroblastoma, polysialic acid, neural cell adhesion molecule, MYCN, c-kit, chromogenic in situ hybridization, hotspot

Exploring the feasibility of applying data mining for library reference service improvement : a case study of Turku Main Library

Data mining, as a heatedly discussed term, has been studied in various fields. Its possibilities in refining the decision-making process, realizing potential patterns and creating valuable knowledge have won attention of scholars and practitioners. However, there are less studies intending to combine data mining and libraries where data generation occurs all the time. Therefore, this thesis plans to fill such a gap. Meanwhile, potential opportunities created by data mining are explored to enhance one of the most important elements of libraries: reference service. In order to thoroughly demonstrate the feasibility and applicability of data mining, literature is reviewed to establish a critical understanding of data mining in libraries and attain the current status of library reference service. The result of the literature review indicates that free online data resources other than data generated on social media are rarely considered to be applied in current library data mining mandates. Therefore, the result of the literature review motivates the presented study to utilize online free resources. Furthermore, the natural match between data mining and libraries is established. The natural match is explained by emphasizing the data richness reality and considering data mining as one kind of knowledge, an easy choice for libraries, and a wise method to overcome reference service challenges. The natural match, especially the aspect that data mining could be helpful for library reference service, lays the main theoretical foundation for the empirical work in this study. Turku Main Library was selected as the case to answer the research question: whether data mining is feasible and applicable for reference service improvement. In this case, the daily visit from 2009 to 2015 in Turku Main Library is considered as the resource for data mining. In addition, corresponding weather conditions are collected from Weather Underground, which is totally free online. Before officially being analyzed, the collected dataset is cleansed and preprocessed in order to ensure the quality of data mining. Multiple regression analysis is employed to mine the final dataset. Hourly visits are the independent variable and weather conditions, Discomfort Index and seven days in a week are dependent variables. In the end, four models in different seasons are established to predict visiting situations in each season. Patterns are realized in different seasons and implications are created based on the discovered patterns. In addition, library-climate points are generated by a clustering method, which simplifies the process for librarians using weather data to forecast library visiting situation. Then the data mining result is interpreted from the perspective of improving reference service. After this data mining work, the result of the case study is presented to librarians so as to collect professional opinions regarding the possibility of employing data mining to improve reference services. In the end, positive opinions are collected, which implies that it is feasible to utilizing data mining as a tool to enhance library reference service.