Expectations, frames and practices of genetic counselling in different contexts of genetic testing

Genetic counselling is a process in which the counsellee receives information and support concerning a genetic disease. This study examines the genetic counselling attached to genetic testing. Since genetic information is increasing alongside new testing technologies and the situations faced at the genetic clinics will therefore be more diverse, it is essential to assess what the expectations directed at genetic counselling are. It is also important to compare how they face the current counselling practices. In this study, the expectations, frames and practices of genetic counselling in different contexts of genetic testing were examined from three different perspectives: First, international guidelines covering genetic counselling were analysed to summarise what is expected from genetic counselling and to study how genetic information is framed. Second, national experts in European countries were asked about the regulations and practices of genetic counselling in their country. Finally, ten counsellees who had visited a genetic clinic were interviewed to analyse their expectations and experiences. The counsellees’ perspective was also approached through the background review of the previous studies on counsellees’ experiences. On the basis of the study, there are basic elements that are expected to be covered in genetic counselling from all perspectives. However, the views concerning bioethics, genetic exceptionalism and psychosocial aspects vary depending on the perspective and on the individual situation. Since there are sometimes more differences than similarities between genetic tests, no universal recommendations for counselling can be applied. The practices of genetic counselling should be defined situationally, emphasising the individual needs over the genes.

Focus on the user: perception, expectations and needs

Esitys KDK-käytettävyystyöryhmän järjestämässä seminaarissa: Miten käyttäjien toiveet haastavat metatietokäytäntöjämme? / How users' expectations challenge our metadata practices? 30.9.2014.

The use of protein structure/activity relationships in the rational design of stable particulate delivery systems

The recombinant heat shock protein (18 kDa-hsp) from Mycobacterium leprae was studied as a T-epitope model for vaccine development. We present a structural analysis of the stability of recombinant 18 kDa-hsp during different processing steps. Circular dichroism and ELISA were used to monitor protein structure after thermal stress, lyophilization and chemical modification. We observed that the 18 kDa-hsp is extremely resistant to a wide range of temperatures (60% of activity is retained at 80ºC for 20 min). N-Acylation increased its ordered structure by 4% and decreased its ß-T1 structure by 2%. ELISA demonstrated that the native conformation of the 18 kDa-hsp was preserved after hydrophobic modification by acylation. The recombinant 18 kDa-hsp resists to a wide range of temperatures and chemical modifications without loss of its main characteristic, which is to be a source of T epitopes. This resistance is probably directly related to its lack of organization at the level of tertiary and secondary structures.

The importance of customer's value expectations in customer acquisition

Pro gradu –tutkielman tavoitteena on tutkia asiakasarvoa ja sitä, miten asiakasarvoa voidaan käyttää hyväksi uusasiakashankinnassa. Tällä hetkellä kirjallisuudessa on pinnalla muutos tuotekeskeisyydestä asiakaskeskeiseen näkökulmaan, joka tunnistaa asiakasarvon tärkeyden bisnes suhteissa. Tämä tutkimus osallistuu kyseiseen keskusteluun muodostamalla tavan mitata asiakasarvoa, ja peilaamalla saavutettuja tuloksia uusasiakashankinta prosessiin. Empiirinen tutkimus on toteutettu kahdessa osassa: kvalitatiivisessa sekä kvantitatiivisessa. Ensimmäisessä osassa haastateltiin kahdeksaa potentiaalista asiakasta, minkä jälkeen saadut tulokset vietiin suurempaan skaalaan toteuttamalla kysely suurelle joukolle potentiaalisia asiakkaita. Lopulliset tulokset osoittavat, että asiakasarvon käyttäminen hyväksi uusasiakashankinnassa on erittäin tehokas ja käyttökelpoinen metodi. Asiakasarvoon perustuvat asiakassegmentit mahdollistavat oikeiden arvojen kommunikoinnin oikeille segmenteille. Se antaa yritykselle myös mahdollisuuden valita houkuttelevimmat asiakasryhmät ja vahvistaa asiakaskantaansa.

Determination of potential value drivers by identifying customer expectations and perceived value

The purpose of this exploratory research is to identify the potential value drivers regarding a new service offering. More specifically, the aim is to build understanding of customer expectations and perceived value of energy efficiency solutions in the building’s sector. The knowledge is then used in defining potential value drivers. The research is conducted from the customer’s perspective in a business-to-business context. The theory part of the master’s thesis focuses on discussing the antecedents of customer expectations and customer value. The theory gives implications how to determine value drivers and develop value propositions as well as conduct value assessment. The empirical part is based on the qualitative research method. The research was conducted as a single-case study, and the primary data was collected through semi-structured interviews with potential customers. The results of the research revealed that the customer expectations are connected to being able to define value drivers. In addition, the research revealed generic themes relating to the offering and customer-supplier relationship, which help in the process of identifying potential value drivers. The results were discussed in terms of product-, service-, price- and relationship-related value drivers for the new service. Based on the data analysis the dominant value drivers are elaborated in terms of identified customer benefits and customer sacrifices (costs). Finally, some implications of value proposition and value assessment to support the value delivery were given.

Value Creation Through Sustainability Within The Housing Industry - A Company’s View

The economy, under the condition of scarcity is meanwhile aiming at more rational economic activities that are efficient and effective. Companies need to know how to make use of new possibilities towards a more sustainable business. The right balance between risk and opportunity implies a sustainable growth and competitive advantage. Managers need to navigate companies across the globalization, as the global economy is constantly in motion. Further, companies have to face trends since the business world is changing radically. In order to keep up with those changes, companies have to recognize new trends early and respond quickly, efficiently and smart. To gain a competitive edge is without a doubt a critical aspect of a comprehensive value creation economy that withstands the demand for value capture and sustainability. Expectations towards a responsible economy are growing steadily. Therefore, companies have increasingly an obligation to economize more sustainable and to communicate their social and environmental commitment externally. Sustainability can live through the entire structure of value creation of a company. By reducing environmental and social risks companies can create values. This value creation thus represents a proper performance of a company and the accomplished added value through companies’ activities.

Probing MST1 Kinase Sequence and Structure for Rational Drug Discovery (Targeting diabetes by blocking protein-protein interactions)

Apoptotic beta cell death is an underlying cause majorly for type I and to a lesser extent for type II diabetes. Recently, MST1 kinase was identified as a key apoptotic agent in diabetic condition. In this study, I have examined MST1 and closely related kinases namely, MST2, MST3 and MST4, aiming to tackle diabetes by exploring ways to selectively block MST1 kinase activity. The first investigation was directed towards evaluating possibilities of selectively blocking the ATP binding site of MST1 kinase that is essential for the activity of the enzymes. Structure and sequence analyses of this site however revealed a near absolute conservation between the MSTs and very few changes with other kinases. The observed residue variations also displayed similar physicochemical properties making it hard for selective inhibition of the enzyme. Second, possibilities for allosteric inhibition of the enzyme were evaluated. Analysis of the recognized allosteric site also posed the same problem as the MSTs shared almost all of the same residues. The third analysis was made on the SARAH domain, which is required for the dimerization and activation of MST1 and MST2 kinases. MST3 and MST4 lack this domain, hence selectivity against these two kinases can be achieved. Other proteins with SARAH domains such as the RASSF proteins were also examined. Their interaction with the MST1 SARAH domain were evaluated to mimic their binding pattern and design a peptide inhibitor that interferes with MST1 SARAH dimerization. In molecular simulations the RASSF5 SARAH domain was shown to strongly interact with the MST1 SARAH domain and possibly preventing MST1 SARAH dimerization. Based on this, the peptidic inhibitor was suggested to be based on the sequence of RASSF5 SARAH domain. Since the MST2 kinase also interacts with RASSF5 SARAH domain, absolute selectivity might not be achieved.

« Recueil des actes, letres et memoires qui ont servi aux conferences tenues en Roussillon, pour les limites des royaumes de France et d'Espagne, du costé des monts Pyrenées, entre Mgrs [Pierre] de Marca, archevesque de Toulouse, et [Hyacinthe] de Serrony, evesque d'Orange, commissaires deputez par le roy [Louis XIV], d'une part, et don Miguel Çalba, lieutenant du maistre rational de la couronne d'Aragon, et don Joseph Romeu, conseiller en l'audiance royale de Barcelone, commissaires deputez par le roy d'Espagne [Philippe IV], d'autre part. Le tout ramassé et mis en ordre par Etienne Baluze, natif de Tulle en Limousin, secretaire dudit seigneur archevesque » de Toulouse. Copies.

Contient : 1 à 71 Ce recueil comprend soixante et onze pièces, dont quinze en espagnol. Les rois Louis XIV et Philippe IV, le cardinal Mazarin, Michel Le Tellier, Pierre de Marca, archevêque de Toulouse, Hyacinthe Serroni, évêque d'Orange, don Miguel Çalba, don Joseph Romeu, le marquis de Mortara, Etienne Baluze, le « docteur Pont, chanoine et archidiacre de la Seu d'Urgel, abbé nommé d'Arles », et « don Joseph de Margarit, marquis d'Aguilar, gouverneur de Catalogne », figurent ici ou comme auteurs ou comme destinataires. Les dates extrêmes sont le 26 novembre 1659 et le 12 novembre 1660

Who expects what from whom? : a gender based study on expectations and secondary school administration

This study is about expectations and aspirations of secondary school teachers. It is an investigation of why some teachers aspire to become administrators and why some teachers do not. My research compares expectations and existing attltudes regarding aspirations toward administration which are held by three distinct groups within the secondary school system: 1) principals/vice-principals, 2) aspiring teachers, and 3) non-aspiring teachers. This study questions why, in the late 60's, secondary school administration is still predominated by men. The conclusions and recommendations were based on interviews with thirty men and women in the Hamilton Secondary School System. In addltion, Mr. Keith Rielly, Superintendent of Operations, made valuable contributions to my work. The interviews revealed experiences and percept ions of men and women in di scourse about f amil y re lat i onshi ps, educational choices and perceived internal and external barriers which inhiblted or enhanced their decision to aspire to secondary school administration. Candidates spoke about their personal and professional Hves wlth respect to encouragement, perceived images of an administrator, netWOrking and the effect of marriage and children on their careers. Historically, women have not accepted the challenge of administration and It would appear as if this is still the case today. My research suggests that women are under-represented in secondary school administration because of internal and external barriers which discourage many women from aspiring. I conclude that many of women's internal barrlers are reinforced by external roadblocks which prevent women from aspiring to secondory school administration. Thus. many women who do not envision a future in educational administration establish priorities outside the general realm of education. I recommend that males and females recognize that women make valuable contributions to educational theory and design based on their experiences which may be "differene from mole experiences. but just as significant. Mole and female representation in secondary school administration represents a balance between attitudes and behaviours which can not be accomplished when an administrative offlce is dominated by on all ma1e or all female staff.

Teachers' perspectives on the implementation of expectations-based curricula /

This qualitative study examines teachers' experiences implementing new standardized curricula in Ontario schools. This new curricula contained several policy changes and an expectations based format which directed what knowledge and skills students were to demonstrate in each subject. This level of specificity of subject-content served to control teachers in relation to curricula; however, data suggested that at the same time, teachers had enormous flexibility in terms of pedagogy. Four secondary teachers who were implementing a Grade 10 course in the 2000-2001 school year participated in the study. The qualitative framework supported the researcher's emphasis on examining the participants' perspectives on the implementation of expectation-based curricula. Data collected included transcripts from interviews conducted with teacher participants and a representative of the Ontario Ministry of Education and Training, field notes, and a research journal. Many of the factors often cited in the literature as influencing implementation practices were found to have affected the participants' experiences of curriculum implementation: time, professional development, and teachers' beliefs, particularly concerning students. In addition, the format of the policy documents proved to both control and free teachers during the implementation process. Participants believed that the number of specific expectations did not provide them an opportunity to add content to the curriculum; at the same time, teachers also noted that the general format of the policy document allowed them to direct instruction to match students' needs and their own teaching preferences. Alignment between teachers' beliefs about education and their understanding of the new curriculum affected the ways in which many participants adapted during the implementation process.

Prime Rational Functions and Integral Polynomials

Let f(x) be a complex rational function. In this work, we study conditions under which f(x) cannot be written as the composition of two rational functions which are not units under the operation of function composition. In this case, we say that f(x) is prime. We give sufficient conditions for complex rational functions to be prime in terms of their degrees and their critical values, and we derive some conditions for the case of complex polynomials. We consider also the divisibility of integral polynomials, and we present a generalization of a theorem of Nieto. We show that if f(x) and g(x) are integral polynomials such that the content of g divides the content of f and g(n) divides f(n) for an integer n whose absolute value is larger than a certain bound, then g(x) divides f(x) in Z[x]. In addition, given an integral polynomial f(x), we provide a method to determine if f is irreducible over Z, and if not, find one of its divisors in Z[x].