Experience with molecular and cytogenetic diagnosis of fragile X syndrome in Brazilian families

We report on the cytogenetic and DNA analysis of 55 families with the fragile X (FMR-1 locus) mutation (318 individuals and 15 chorionic villi samples). A total of 129 males were investigated, 54 mentally normal and 75 presenting mental retardation. Among the 54 normal males, 11 had the premutation, and none expressed the fragile site. The full mutation was detected in 73 retarded males, and 14 (18%) presented a premutation along with the full mutation (mosaics). All of them manifested the fragile site. The frequencies of fragile site expression correlated positively with the sizes of the expansion of the CGG repeats (D). Among 153 normal females, 85 were found to be heterozygous for the premutation and 15 had the full mutation. In the premutated females the fragile site was not observed or it occurred at frequencies that did not differ from those observed in 53 noncarriers. Cytogenetic analysis was thus ineffective for the diagnosis of premutated males or females. Among the 51 heterozygotes for the full mutation, 36 (70%) had some degree of mental impairment. As in males, a positive correlation was detected between the frequencies of fragile site manifestation and the size of the expansion. However, the cytogenetic test was less effective for the detection of fully mutated females, than in the case of males, since 14% false negative results were found among females. Segregation analysis confirmed that the risk of mental retardation in the offspring of heterozygotes increases with the length of D. The average observed frequency of mental retardation in the offspring of all heterozygotes was 30%. There was no indication of meiotic drive occurring in female carriers, since the number of individuals who inherited the mutation did not differ from the number of those inheriting the normal allele. No new mutations were detected in the 55 genealogies studied here.

Reproductive experience influences grooming behavior during pregnancy in rats

The pregnancy-induced increase in self-licking observed in rats is important for mammary gland development and lactation. Reproductive experience has epidemiologial implications such as a decrease in the incidence of mammary gland cancer in women and it also influences various behavioral, neurochemical and endocrine parameters. The aim of the present study was to investigate the influence of reproductive experience on grooming behavior patterns during pregnancy in rats. Self-grooming behavior was measured in age-matched virgin, primi- and multigravid (days 7, 8, 9, 19, and 20 of pregnancy) rats. General grooming (head, forelimbs and shoulders) was not significantly different among virgin, primi- and multigravid rats during pregnancy. Confirming previous work, pregnant rats spent significantly more time in specific grooming (mammary glands, nipple lines, genital and pelvic regions) than did virgin animals. In addition, self- licking of mammary glands was significantly increased in multi- as compared to primigravid rats on days 8, 9, 19 and 20 of pregnancy. The increase in mammary gland grooming observed in multigravid rats appears to be a consequence of previous reproductive experience. These data show that reproductive experience modulates mammary gland grooming during pregnancy, possibly contributing to successful reproduction.

Acute myeloid leukemia in elderly patients: experience of a single center

Acute myeloid leukemia (AML) is a disease predominantly of older adults. Treatment of AML in the elderly is complicated not only by comorbidities but also by the high prevalence of poor prognosis markers. Thirty-one consecutive unselected patients with AML older than 60 years (representing 33% of all AML cases diagnosed at our institution during the same period) were followed over a period of 5 years (1997-2002). A high incidence of AML with multilineage dysplasia (45%) and no favorable cytogenetic abnormalities but 62% intermediate and 38% unfavorable karyotypes were found. Sixteen patients (52%) were selected for induction of intensive cytotoxic treatment and complete remission was achieved only by some of these intensively treated patients (7 of 16). Of these, 3 remained alive without disease (median: 11 months), 1 patient died shortly after complete remission, and 3 patients relapsed and died from refractory disease. Only 1 patient that was refractory to intensive cytotoxic treatment remained alive with disease under supportive care. Fifteen patients (48%) were managed with palliative/supportive care: 7 received palliative treatment and supportive care, 8 received supportive care only, and 4 patients remained alive with disease under supportive care (median: 9 months). Mortality rate was 74% and overall survival at two years was 12%. To the best of our knowledge, there is no previous report regarding elderly patients with AML in Brazilian subsets. The present data are similar to previously reported studies showing that elderly AML patients are not only older but also biologically distinct from younger AML patients, particularly in terms of the high incidence of poor prognostic karyotypes and resistance to therapy.

Livets källa kärleken : hälsans urkraft

This basic research focuses on the ethos of health and the human being's becoming in health. The theoretical perspective consists of the caring tradition within caring science developed at Åbo Akademy University. The aim of the present doctoral thesis is to uncover a new understanding as well as to deepen and attain a more nuanced understanding of the ethos of health, the essence of health, by penetrating to the core of what gives the human being the strength for experiencing a becoming in health. The research questions are as follows: l) What is the human being's source of strength? and 2) What reveals the source of strength so that the human being can perceive it and dedicate its strength in order to experience a becoming in health? The primary methodology used in the dissertation is hermeneutical. The material consists of the work Kärlekens gerningar by Kierkegaard, texts from focused interviews with respondents who have lived through severe personal suffering, as well as the book Det bländande mörkret by Wikström. These texts are interpreted through hermeneutical reading. The new horizon of understanding that emerges is reflected towards Eriksson's caritative theory, towards prior research within the tradition of caring science at Åbo Akademy University and towards previous national and international studies within this field. The new understanding shows that the human being's source of strength is love, the essence and origin of life. The substance of health is love, which, through the trinity of faith, hope and love, also makes possible the existence of the source of strength. Love has a deeper dignity than faith and hope, is connected with eternity and is the uniting link between temporality and eternity. The human being's inner longing entails an ontological attraction towards the source of strength. This source of strength is hidden, which provides and maintains its force, like a mystery connected with the darkness of suffering that hides the secret representing the source of strength, life's mystery, bu t w hi ch is revealed in both the darkness of suffering and in the light of joy. The dedication of strength requires freedom, willingness and courage to see the light, despite awareness of shame and guilt. Creative acts liberate the human being for the dedication of strength, which is preceded by a holy presence where, in solitude, the human being makes sacrifices for the sake of his or her human smallness and weakness, and allows himself or herself to be enclosed by the darkness of suffering to discover the light from the source. This entails being enraptured in a quiet "doing" in order to experience the beauty that bears witness to the holy which creates unity. The source of strength is revealed through beauty. The ethos of the human being and the ethos of health have the same fundamental substance, whilst the ethos of life possesses the deepest dimension and concerns the mysterious and infinite eternity. The ethos of life, eternity, which is a wellspring of strength, is not in itself strength-giving unless it is allied with love. Health can be understood in the light of life, of which death is an inevitable part. Life itself constitutes and creates the source which, through its alliance with eternity' s primordial wellspring of strength, generates strength from which the human being's source of strength, love, receives its eternal fervour. The human being is fundamentally interconnected with an abstract other, the first love, a universal wellspring of strength. Through Communion with this abstract other a dedication of the strength to experience a becoming in health becomes possible. Love for one's neighbour is the fundamental substance in the movement of becoming in health. Becoming in health presupposes a simultaneous movement in which the human being practices the human calling through ethos. As one loves one's neighbour through actions the still forces of eternity are in motion. When life emerges in the foreground and becomes the home of the human being, a dedication of the power of love is possible. Life itself determines the human being's becoming in health. A humble fundamental attitude towards life constitutes the basis for a continuous dedication of vitality from this source.

Epidemiological studies in the information and genomics era: experience of the Clinical Genome of Cancer Project in São Paulo, Brazil

Genomics is expanding the horizons of epidemiology, providing a new dimension for classical epidemiological studies and inspiring the development of large-scale multicenter studies with the statistical power necessary for the assessment of gene-gene and gene-environment interactions in cancer etiology and prognosis. This paper describes the methodology of the Clinical Genome of Cancer Project in São Paulo, Brazil (CGCP), which includes patients with nine types of tumors and controls. Three major epidemiological designs were used to reach specific objectives: cross-sectional studies to examine gene expression, case-control studies to evaluate etiological factors, and follow-up studies to analyze genetic profiles in prognosis. The clinical groups included patients' data in the electronic database through the Internet. Two approaches were used for data quality control: continuous data evaluation and data entry consistency. A total of 1749 cases and 1509 controls were entered into the CGCP database from the first trimester of 2002 to the end of 2004. Continuous evaluation showed that, for all tumors taken together, only 0.5% of the general form fields still included potential inconsistencies by the end of 2004. Regarding data entry consistency, the highest percentage of errors (11.8%) was observed for the follow-up form, followed by 6.7% for the clinical form, 4.0% for the general form, and only 1.1% for the pathology form. Good data quality is required for their transformation into useful information for clinical application and for preventive measures. The use of the Internet for communication among researchers and for data entry is perhaps the most innovative feature of the CGCP. The monitoring of patients' data guaranteed their quality.

Store experiences and their influence on store performance and brand strength: Case Samsung Experience Store

Experiential marketing is increasingly seen as a new magical key to consumers’ hearts. Brands are turning brick-and-mortar stores into state of the art retail spaces where memorable experiences and strong brand relationships are hoped to be born. Around the globe, several brands have opened up a special format of stores – the experience store. Although many speculations on the positive effects of experiences have been presented, few studies have provided empirical, quantified evidence for the link between store experiences and brand success. In consequence, research was needed to find out whether experience stores truly are so special. The purpose of this thesis was to investigate whether store experiences are capable of building brands and influencing store performance. For this purpose, empirical research was conducted in the Samsung Experience Store Helsinki. As main constructs of the study, store experience, brand equity, store performance, and product class involvement were measured, along with relevant background variables. Data was collected with an electronic survey from actual customers of the store, resulting in a sample of 131 respondents. Partial least squares structural equations modeling (PLS) was used for the analysis of the research model. Also, regression analysis was conducted to account for mediation and moderation effects. The results showed that store experiences do positively influence first, store performance, and second, separate dimensions of brand equity (that is, brand awareness, brand personality, and brand loyalty). Also, the effect of store experiences on store performance was found to be mediated by brand equity. Interestingly, customers’ product class involvement was detected to moderate the effect of store experience on store performance. That is, those who were highly involved with electronics had greater store experiences, and also displayed a stronger linkage between store experience and store performance. The results encourage marketers to continue with efforts to create great experiences for their customers. Experience stores can – and should be seen – as both powerful brand building tools and profitable sales channels. The creation of exceptional experiences can act as an important function of physical stores in the face of severe online competition.

User Experience of Geocaching and Its Application to Tourism and Education

Advances in technology have provided new ways of using entertainment and game technology to foster human interaction. Games and playing with games have always been an important part of people’s everyday lives. Traditionally, human-computer interaction (HCI) research was seen as a psychological cognitive science focused on human factors, with engineering sciences as the computer science part of it. Although cognitive science has made significant progress over the past decade, the influence of people’s emotions on design networks is increasingly important, especially when the primary goal is to challenge and entertain users (Norman 2002). Game developers have explored the key issues in game design and identified that the driving force in the success of games is user experience. User-centered design integrates knowledge of users’ activity practices, needs, and preferences into the design process. Geocaching is a location-based treasure hunt game created by a community of players. Players use GPS (Global Position System) technology to find “treasures” and create their own geocaches; the game can be developed when the players invent caches and used more imagination to creations the caches. This doctoral dissertation explores user experience of geocaching and its applications in tourism and education. Globally, based on the Geocaching.com webpage, geocaching has been played about 180 countries and there are more than 10 million registered geocachers worldwide (Geocaching.com, 25.11.2014). This dissertation develops and presents an interaction model called the GameFlow Experience model that can be used to support the design of treasure hunt applications in tourism and education contexts. The GameFlow Model presents and clarifies various experiences; it provides such experiences in a real-life context, offers desirable design targets to be utilized in service design, and offers a perspective to consider when evaluating the success of adventure game concepts. User-centered game designs have adapted to human factor research in mainstream computing science. For many years, the user-centered design approach has been the most important research field in software development. Research has been focusing on user-centered design in software development such as office programs, but the same ideas and theories that will reflect the needs of a user-centered research are now also being applied to game design (Charles et al. 2005.) For several years, we have seen a growing interest in user experience design. Digital games are experience providers, and game developers need tools to better understand the user experience related to products and services they have created. This thesis aims to present what the user experience is in geocaching and treasure hunt games and how it can be used to develop new concepts for the treasure hunt. Engineers, designers, and researchers should have a clear understanding of what user experience is, what its parts are, and most importantly, how we can influence user satisfaction. In addition, we need to understand how users interact with electronic products and people, and how different elements synergize their experiences. This doctoral dissertation represents pioneering work on the user experience of geocaching and treasure hunt games in the context of tourism and education. The research also provides a model for game developers who are planning treasure hunt concepts.

Histidine-tryptophan-ketoglutarate solution decreases mortality and morbidity in high-risk patients with severe pulmonary arterial hypertension associated with complex congenital heart disease: an 11-year experience from a single institution

Cardioplegic reperfusion during a long term ischemic period interrupts cardiac surgery and also increases cellular edema due to repeated solution administration. We reviewed the clinical experiences on myocardial protection of a single perfusion with histidine-tryptophan-ketoglutarate (HTK) for high-risk patients with severe pulmonary arterial hypertension associated with complex congenital heart disease. This retrospective study included 101 high-risk patients undergoing arterial switch operation between March 2001 and July 2012. We divided the cohort into two groups: HTK group, myocardial protection was carried out with one single perfusion with HTK solution; and St group, myocardial protection with conventional St. Thomas' crystalloid cardioplegic solution. The duration of cardiopulmonary bypass did not differ between the two groups. The mortality, morbidity, ICU stay, post-operative hospitalization time, and number of transfusions in HTK group were lower than those in St group (P<0.05). Univariate and multivariate analysis showed that HTK is a statistically significant independent predictor of decreased early mortality and morbidity (P<0.05). In conclusion, HTK solution seems to be an effective and safe alternative to St. Thomas' solution for cardioplegic reperfusion in high-risk patients with complex congenital heart disease.

Creating better customer experiences: Service Design effects on customer experience

Pro gradu –tutkielman tavoitteena oli tutkia, kuinka palvelumuotoilua voidaan käyttää parempien asiakaskokemusten luomisessa. Tutkimuksen teoreettisessa osuudessa keskityttiin tutkimaan palvelumuotoilun ja asiakaskokemuksen käsitteitä. Tutkielman empiirinen osuus tehtiin laadullisena tutkimuksena, jossa vertailtiin asiakaskokemuksia kahdessa Espoon kaupungin yhteispalvelupisteessä: Leppävaarassa sijaitseva yhteispalvelupiste oli hiljattain suunniteltu uudelleen käyttäen palvelumuotoilun periaatteita; Matinkylän palvelupiste oli alkuperäisessä muodossaan tutkimuksen aikana. Tutkimuksen yhtenä tavoitteena oli myös selvittää, oliko palvelumuotoilun menetelmin tehty muotoiluprojekti Leppävaaran yhteispalvelupisteessä onnistunut, kun sitä arvioitiin asiakaskokemuksen näkökulmasta. Tutkielman aineisto kerättiin suoran havainnoinnin ja haastattelun keinoin. Yhteensä 33 yksittäistä asiakasta havannoitiin ja haastateltiin tutkimusta varten toukokuussa 2015. Vastaajat valikoituivat satunnaisesti havannointipäivien asiakkaista. Heitä havainnoitiin koko asiakaspolun ajan minkä jälkeen heitä haastateltiin. Tutkimuksen tulokset ovat kaksiosaiset. 1) Arvioitaessa asiakkaiden kokemuksia liittyen palvelutilan toimivuuteen ja aineelliseen ympäristöön todettiin, että palvelumuotoilulla saavuttettiin parempi asiakaskokemus, ja täten Leppävaaran muotoiluprojekti oli onnistunut tavoitteissaan. 2) Kun taas tuloksia tarkasteltiin asiakaspalvelutilanteiden näkökulmasta, projekti ei ollut päässyt tavoitteisiin ja palvelumuotoilun menetelmillä ei pystytty parantamaan asiakaskokemuksta. Espoon kaupungin muotoiluprojekti on vielä kesken, tulosten perusteella tutkija ehdotti jatkotoimenpiteenä muun muassa lisäkoulutusta palveluhenkilökunnalle.

The new era of customer experience in the omni-channel environment of a communication service provider

This study discusses the evolution of an omni-channel model in managing customer experience. The purpose of this thesis is to expand the current academic literature available on omni-channel and offer suggestions for omni-channel creation. This is done by studying the features of an omni-channel approach into engaging with customers and through the sub-objectives of describing the process behind its initiation as well as the special features communication service providers need to take in consideration. Theories used as a background for this study are related to customer experience, channel management, omni-channel and finally change management. The empirical study of this thesis consists of seven expert interviews conducted in a case company. The interviews were held between March and November 2014. One of the interviewees is the manager of an omni-channel development team, whilst the rest were in charge of the management of the various customer channels of the company. The organization and analysis of the interview data was conducted topically. The use of themes related to major theories on the subject was utilized to create linkages between theory and practice. The responses were also organized in two groups based on the viewpoint to map responses related to the company perspective as well as the customers´ perspective. The findings in this study are that omni-channel is among the best tools for companies to respond to the challenge induced by changing customer needs and preferences, as well as intensifying competitive environment. The omni-channel model was found to promote excellent customer experience and thus to be a source of competition advantage and increasing financial returns by creating an omni-experience for the customer. Through omniexperience customers see all of the transactions with a company presenting one brand and providing ease and effortlessness in every encounter. The processes behind omni-channel formulation were identified as customer experience proclaimed as the most important strategic goal, mapping and establishing a unified brand experience in all (service) channels and empowering the first line personnel as the gate keepers of omniexperience. Further the tools, measurement and supporting strategies were to be in accordance with the omni-channel strategy and the customer needs to become a partner in a two way transaction with the firm. Based on these findings a model for omni-channel creation is offered. Future research is needed to firstly, further test these findings and expand the theoretical framework on omni-channel, as it is quite scarce to date and secondly, to increase the generalizability of the model suggested.

Customer Experience Management – How to Improve the Customer Experience Management and its Measurement

The main goal of this master’s thesis was to find out, how to improve customer experience management and measurement. This study is a qualitative case study, in which the data collection method has been interviews. In addition, some of the company’s customer experience measurement methods have been analyzed. The theoretical background is applied in practice by interviewing 5 representatives from the case company. In the case company, the management has launched a customer experience focused program, and given guidelines for customer experience improvement. In the case company, customer experience is measured with different methods, one example is asking the recommendation readiness from a customer. In order to improve the customer experience management, the case company should define, what the company means with customer experience and what kind of customer experience the company is aiming to create. After the encounter, the customer should be left with feelings of satisfaction, positivity and trust. The company should focus on easiness in its processes, on top of which the processes should work fluently. The customer experience management should be improved through systematic planning, and by combining and standardizing different measures. In addition, some channel-based measures should be used. The measurement conducted should be more customer focused, and the case company should form an understanding, which touch points are the most relevant to measure.

Immunosupressive therapy in children with steroid-resistant nephrotic syndrome: single center experience

INTODUCTION: Nephrotic syndrome is one of the most frequent glomerular diseases among children, and steroid therapy remains as the treatment choice. In spite of this, 10 to 15% of the patients are steroidresistant, and the best therapy for such cases has never been defined. Mycophenolate acid (MA) is one of the treatments used in such situations. OBJECTIVE: To describe the clinical behavior of children diagnosed with steroid-resistant nephrotic syndrome (SRNS) and to assess the therapeutic response to MA. METHODS: This was a retrospective and descriptive study. RESULTS: 26 clinical records of patients with SRNS; 70% male and 30% female. All patients underwent kidney biopsies, which showed a predominance of focal segmental glomerulosclerosis (FSGS). The immunosuppresive drugs used were: Mycophenolate mofetil (MMF) 100%, Cyclosporine 69.2%, Cyclophosphamide 23.1%, and Rituximab 23%. One month after treatment initiation with MMF 61.5% achieved remission. The median of relapses per year for the patients was 3 (p25: 2.75 - p75: 4). This median became 1 (p25: 1 - p75: 3.25) after using this medication (p = 0.08). Furthermore, prior to the start of the MMF treatment, the median of the steroid dose was 1 (p25: 0.5- p75: 1.62) mg/k/day. After using MMF, this median became 0.07 (p25: 0 - p75: 0.55) mg/k/day (p < 0.001), in 8 patients prednisolone was stopped. CONCLUSION: In our experience, treatment with MMF showed positive results such as decrease in the frequency of relapses, less proteinuria, and reduction in the dose of steroids administered without deterioration of glomerular filtration rates. However, more studies are needed to assess efficacy, safety, and optimal dosage.

Tuberculosis in renal transplant patients: The experience of a single center in Medellín-Colombia, 2005-2013

Introduction: Tuberculosis is a common opportunistic infection in renal transplant patients. Objective: To obtain a clinical and laboratory description of transplant patients diagnosed with tuberculosis and their response to treatment during a period ranging from 2005 to 2013 at the Pablo Tobón Uribe Hospital. Methods: Retrospective and descriptive study. Results: In 641 renal transplants, tuberculosis was confirmed in 12 cases. Of these, 25% had a history of acute rejection, and 50% had creatinine levels greater than 1.5 mg/dl prior to infection. The disease typically presented as pulmonary (50%) and disseminated (33.3%). The first phase of treatment consisted of 3 months of HZRE (isoniazid, pyrazinamide, rifampicin and ethambutol) in 75% of the cases and HZME (isoniazid, pyrazinamide, moxifloxacin and ethambutol) in 25% of the cases. During the second phase of the treatment, 75% of the cases received isoniazid and rifampicin, and 25% of the cases received isoniazid and ethambutol. The length of treatment varied between 6 and 18 months. In 41.7% of patients, hepatotoxicity was associated with the beginning of anti-tuberculosis therapy. During a year-long follow-up, renal function remained stable, and the mortality rate was 16.7%. Conclusion: Tuberculosis in the renal transplant population studied caused diverse nonspecific symptoms. Pulmonary and disseminated tuberculosis were the most frequent forms and required prolonged treatment. Antituberculosis medications had a high toxicity and mortality. This infection must be considered when patients present with a febrile syndrome of unknown origin, especially during the first year after renal transplant.