Cryptic mosaicism involving a second chromosome X in patients with Turner syndrome

The high abortion rate of 45,X embryos indicates that patients with Turner syndrome and 45,X karyotype could be mosaics, in at least one phase of embryo development or cellular lineage, due to the need for the other sex chromosome presence for conceptus to be compatible with life. In cases of structural chromosomal aberrations or hidden mosaicism, conventional cytogenetic techniques can be ineffective and molecular investigation is indicated. Two hundred and fifty patients with Turner syndrome stigmata were studied and 36 who had female genitalia and had been cytogenetically diagnosed as having "pure" 45,X karyotype were selected after 100 metaphases were analyzed in order to exclude mosaicism and the presence of genomic Y-specific sequences (SRY, TSPY, and DAZ) was excluded by PCR. Genomic DNA was extracted from peripheral blood and screened by the human androgen receptor (HUMARA) assay. The HUMARA gene has a polymorphic CAG repeat and, in the presence of a second chromosome with a different HUMARA allele, a second band will be amplified by PCR. Additionally, the CAG repeats contain two methylation-sensitive HpaII enzyme restriction sites, which can be used to verify skewed inactivation. Twenty-five percent (9/36) of the cases showed a cryptic mosaicism involving a second X and approximately 14% (5/36), or 55% (5/9) of the patients with cryptic mosaicism, also presented skewed inactivation. The laboratory identification of the second X chromosome and its inactivation pattern are important for the clinical management (hormone replacement therapy, and inclusion in an oocyte donation program) and prognostic counseling of patients with Turner syndrome.

Cancer research in Brazil - stuck in second gear?

This article describes the main issues regarding clinical cancer research in Brazil, including both the opportunities and the hurdles. Scientists and clinicians in this field had the opportunity to talk to regulatory agencies and to the Health Ministry representative at a meeting held in the State of Rio de Janeiro, Brazil, in April 2014. Our conclusions are that we do indeed have opportunities; however, we need to move forward regarding partnerships between academia and industry, increase the availability of funding, and provide easier navigation through the regulatory processes.

Association between anaerobic components of the maximal accumulated oxygen deficit and 30-second Wingate test

The purpose of this study was to analyze the relationship between the anaerobic components of the maximal accumulated oxygen deficit (MAOD) and of the 30-second Wingate anaerobic test (30-WAnT). Nine male physical education students performed: a) a maximal incremental exercise test; b) a supramaximal constant workload test to determine the anaerobic components of the MAOD; and c) a 30-WAnT to measure the peak power (PP) and mean power (MP). The fast component of the excess post-exercise oxygen consumption and blood lactate accumulation were measured after the supramaximal constant workload test in order to determine the contributions made by alactic (ALMET) and lactic (LAMET) metabolism. Significant correlations were found between PP and ALMET (r=0.71; P=0.033) and between MP and LAMET(r=0.72; P=0.030). The study results suggested that the anaerobic components of the MAOD and of the 30-WAnT are similarly applicable in the assessment of ALMET and LAMET during high-intensity exercise.

Analyzing and Computing the Sustainability Gains of Building Automation

Smart home implementation in residential buildings promises to optimize energy usage and save significant amount of energy simply due to a better understanding of user's energy usage profile. Apart from the energy optimisation prospects of this technology, it also aims to guarantee occupants significant amount of comfort and remote control over home appliances both at home locations and at remote places. However, smart home investment just like any other kind of investment requires an adequate measurement and justification of the economic gains it could proffer before its realization. These economic gains could differ for different occupants due to their inherent behaviours and tendencies. Thus it is pertinent to investigate the various behaviours and tendencies of occupants in different domain of interests and to measure the value of the energy savings accrued by smart home implementations in these domains of interest in order to justify such economic gains. This thesis investigates two domains of interests (the rented apartment and owned apartment) for primarily two behavioural tendencies (Finland and Germany) obtained from observation and corroborated by conducted interviews to measure the payback time and Return on Investment (ROI) of their smart home implementations. Also, similar measures are obtained for identified Australian use case. The research finding reveals that building automation for the Finnish behavioural tendencies seems to proffers a better ROI and payback time for smart home implementations.

Designing new learning experiences? : exploring corporate E-learners’ self-regulated learning

The context of this study is corporate e-learning, with an explicit focus on how digital learning design can facilitate self-regulated learning (SRL). The field of e-learning is growing rapidly. An increasing number of corporations use digital technology and elearning for training their work force and customers. E-learning may offer economic benefits, as well as opportunities for interaction and communication that traditional teaching cannot provide. However, the evolving variety of digital learning contexts makes new demands on learners, requiring them to develop strategies to adapt and cope with novel learning tools. This study derives from the need to learn more about learning experiences in digital contexts in order to be able to design these properly for learning. The research question targets how the design of an e-learning course influences participants’ self-regulated learning actions and intentions. SRL involves learners’ ability to exercise agency in their learning. Micro-level SRL processes were targeted by exploring behaviour, cognition, and affect/motivation in relation to the design of the digital context. Two iterations of an e-learning course were tested on two groups of participants (N=17). However, the exploration of SRL extends beyond the educational design research perspective of comparing the effects of the changes to the course designs. The study was conducted in a laboratory with each participant individually. Multiple types of data were collected. However, the results presented in this thesis are based on screen observations (including eye tracking) and video-stimulated recall interviews. These data were integrated in order to achieve a broad perspective on SRL. The most essential change evident in the second course iteration was the addition of feedback during practice and the final test. Without feedback on actions there was an observable difference between those who were instruction-directed and those who were self-directed in manipulating the context and, thus, persisted whenever faced with problems. In the second course iteration, including the feedback, this kind of difference was not found. Feedback provided the tipping point for participants to regulate their learning by identifying their knowledge gaps and to explore the learning context in a targeted manner. Furthermore, the course content was consistently seen from a pragmatic perspective, which influenced the participants’ choice of actions, showing that real life relevance is an important need of corporate learners. This also relates to assessment and the consideration of its purpose in relation to participants’ work situation. The rigidity of the multiple choice questions, focusing on the memorisation of details, influenced the participants to adapt to an approach for surface learning. It also caused frustration in cases where the participants’ epistemic beliefs were incompatible with this kind of assessment style. Triggers of positive and negative emotions could be categorized into four levels: personal factors, instructional design of content, interface design of context, and technical solution. In summary, the key design choices for creating a positive learning experience involve feedback, flexibility, functionality, fun, and freedom. The design of the context impacts regulation of behaviour, cognition, as well as affect and motivation. The learners’ awareness of these areas of regulation in relation to learning in a specific context is their ability for design-based epistemic metareflection. I describe this metareflection as knowing how to manipulate the context behaviourally for maximum learning, being metacognitively aware of one’s learning process, and being aware of how emotions can be regulated to maintain volitional control of the learning situation. Attention needs to be paid to how the design of a digital learning context supports learners’ metareflective development as digital learners. Every digital context has its own affordances and constraints, which influence the possibilities for micro-level SRL processes. Empowering learners in developing their ability for design-based epistemic metareflection is, therefore, essential for building their digital literacy in relation to these affordances and constraints. It was evident that the implementation of e-learning in the workplace is not unproblematic and needs new ways of thinking about learning and how we create learning spaces. Digital contexts bring a new culture of learning that demands attitude change in how we value knowledge, measure it, define who owns it, and who creates it. Based on the results, I argue that digital solutions for corporate learning ought to be built as an integrated system that facilitates socio-cultural connectivism within the corporation. The focus needs to shift from designing static e-learning material to managing networks of social meaning negotiation as part of a holistic corporate learning ecology.

FUTURES OF FINNISH FOOD SYSTEM BY 2050. The perspective of resilience

Modern food systems face complex global challenges such as climate change, resource scarcities, population growth, concentration and globalization. It is not possible to forecast how all these challenges will affect food systems, but futures research methods provide possibilities to enable better understanding of possible futures and that way increases futures awareness. In this thesis, the two-round online Delphi method was utilized to research experts’ opinions about the present and the future resilience of the Finnish food system up to 2050. The first round questionnaire was constructed based on the resilience indicators developed for agroecosystems. Sub-systems in the study were primary production (main focus), food industry, retail and consumption. Based on the results from the first round, the future images were constructed for primary production and food industry sub-sections. The second round asked experts’ opinion about the future images’ probability and desirability. In addition, panarchy scenarios were constructed by using the adaptive cycle and panarchy frameworks. Furthermore, a new approach to general resilience indicators was developed combining “categories” of the social ecological systems (structure, behaviors and governance) and general resilience parameters (tightness of feedbacks, modularity, diversity, the amount of change a system can withstand, capacity of learning and self- organizing behavior). The results indicate that there are strengths in the Finnish food system for building resilience. According to experts organic farms and larger farms are perceived as socially self-organized, which can promote innovations and new experimentations for adaptation to changing circumstances. In addition, organic farms are currently seen as the most ecologically self-regulated farms. There are also weaknesses in the Finnish food system restricting resilience building. It is important to reach optimal redundancy, in which efficiency and resilience are in balance. In the whole food system, retail sector will probably face the most dramatic changes in the future, especially, when panarchy scenarios and the future images are reflected. The profitability of farms is and will be a critical cornerstone of the overall resilience in primary production. All in all, the food system experts have very positive views concerning the resilience development of the Finnish food system in the future. Sometimes small and local is beautiful, sometimes large and international is more resilient. However, when probabilities and desirability of the future images were questioned, there were significant deviations. It appears that experts do not always believe desirable futures to materialize.

THE ROLE OF CULTURAL AWARENESS IN BUILDING CHINESE HEALTH FOOD BRANDS Using Netnography in Searching Cultural Arguments to Be Used for Marketing Health Foods in China

Despite the complexity of the Chinese culture consumer product businesses should apply them in building brands for Chinese markets. There are reasons to believe that cultural values and attitudes affect the buying behavior of Chinese consumers. Companies that wish to create brands in China should therefore be aware of the prevailing cultural values and consumer attitudes. This thesis will examine which values and attitudes mostly affect Chinese consumers of health food products. The study will be done by conducting a netnography. Because netnography is actually a collection methods rather than a single method, other auxiliary methods will also be applied. These methods are emotion, language and sentiment analysis (ELS analysis). Emotion analysis will be conducted because cultural values are mostly built on emotional basis. Sentiment analysis will assist in recognizing the key factors that help to locate values and attitudes. Because the netnography will be conducted in Chinese web forums by a non-native researcher, linguistic aspects should also be analyzed in parallel with emotions and sentiment analysis. The study shows that the Chinese consumers of health food products put much importance on functional, analytical and collectivistic attitudes as well as social and psychological values. Of all the twelve cultural values defined, the role of family rose above all. Also perseverance, frugality, guanxi and harmony were highly presented. The attitudes were found by recognizing certain attitude factors. Of all the factors, health foods’ functional benefits and aesthetic content together with consumers’ value consciousness surpassed other factors. Besides these results that can be applied by foreign health food companies willing to enter Chinese consumer markets, also academia can benefit this new approach for conducting ethnographies online.

The way to organizational longevity - Balancing stability and change in Shinise firms

THE WAY TO ORGANIZATIONAL LONGEVITY – Balancing stability and change in Shinise firms The overall purpose of this dissertation is to investigate the secret of longevity in Shinise firms. On the basic assumption that organizational longevity is about balancing stability and change, the theoretical perspectives incorporate routine practice, organizational culture, and organizational identity. These theories explain stability and change in an organization separately and in combination. Qualitative inductive theory building was used in the study. Overall, the empirical data comprised 75 in-depth and semi-structured interviews, 137 archival materials, and observations made over 17 weeks. According to the empirical findings, longevity in Shinise firms is attributable to the internal mechanisms (Shinise tenacity, stability in motion, and emergent change) to secure a balance between stability and change, the continuing stability of the socio-cultural environment in the local community, and active interaction between organizational and local cultures. The contribution of the study to the literature on organizational longevity and the alternative theoretical approaches is first, in theorizing the mechanisms of Shinise tenacity and cross-level cultural dynamism, and second, in pointing out the critical role of: the way firms set their ultimate goal, the dynamism in culture, and the effect of history of the firm to the current business in securing longevity. KEY WORDS Change; Culture; Organizational identity; Organizational longevity; Routines; Shinise firms; Stability; Qualitative research

FUTURES OF FINNISH FOOD SYSTEM BY 2050. The perspective of resilience

Modern food systems face complex global challenges such as climate change, resource scarcities, population growth, concentration and globalization. It is not possible to forecast how all these challenges will affect food systems, but futures research methods provide possibilities to enable better understanding of possible futures and that way increases futures awareness. In this thesis, the two-round online Delphi method was utilized to research experts’ opinions about the present and the future resilience of the Finnish food system up to 2050. The first round questionnaire was constructed based on the resilience indicators developed for agroecosystems. Sub-systems in the study were primary production (main focus), food industry, retail and consumption. Based on the results from the first round, the future images were constructed for primary production and food industry sub-sections. The second round asked experts’ opinion about the future images’ probability and desirability. In addition, panarchy scenarios were constructed by using the adaptive cycle and panarchy frameworks. Furthermore, a new approach to general resilience indicators was developed combining “categories” of the social ecological systems (structure, behaviors and governance) and general resilience parameters (tightness of feedbacks, modularity, diversity, the amount of change a system can withstand, capacity of learning and self- organizing behavior). The results indicate that there are strengths in the Finnish food system for building resilience. According to experts organic farms and larger farms are perceived as socially self-organized, which can promote innovations and new experimentations for adaptation to changing circumstances. In addition, organic farms are currently seen as the most ecologically self-regulated farms. There are also weaknesses in the Finnish food system restricting resilience building. It is important to reach optimal redundancy, in which efficiency and resilience are in balance. In the whole food system, retail sector will probably face the most dramatic changes in the future, especially, when panarchy scenarios and the future images are reflected. The profitability of farms is and will be a critical cornerstone of the overall resilience in primary production. All in all, the food system experts have very positive views concerning the resilience development of the Finnish food system in the future. Sometimes small and local is beautiful, sometimes large and international is more resilient. However, when probabilities and desirability of the future images were questioned, there were significant deviations. It appears that experts do not always believe desirable futures to materialize.