Caracterização genotípica de doentes portugueses com patologias associadas ao complexo multienzimático lisossomal: sialidose e galactosialidose

Dissertação de mestrado em Biologi apresentada à Faculdade de Ciências da Universidade do Porto, 2008

Cultural and Social Cognitive Predictors of Academic Satisfaction in Southeast Asian American College Students

This study examined the predictive utility of Lent’s (2004) social cognitive model of well-being in the context of academic satisfaction with a sample of Southeast Asian American college students using a cross-sectional design. Path analysis was used to examine the role of perceived parental trauma, perceived parental acculturative stress, intergenerational family conflict, and social cognitive predictors to academic satisfaction. Participants were 111 Southeast Asian American and 111 East Asian American college students who completed online measures. Contrary to expectations, none of the contextual cultural variables were significant predictors of academic satisfaction. Also contrary to expectations, academic support and self-efficacy were not directly linked to academic satisfaction and outcome expectation was not linked to goal progress. Other social cognitive predictors were related directly and indirectly to academic satisfaction, consistent with prior research. Limitations and implications for future research and practice are addressed.

Do psychological factors play a crucial role in sport performance?: research on personality and psychological variables of athletes in Hungary

Contemporary research aims to investigate background factors that contribute to successful sport performance. Of these factors the psychological well-being and mental health status should be underlined that have gained a significant role, particularly in the frames of sport psychological counseling. The aim of the present study is to seek for interrelations of psychological variables and sport performance of young athletes, and to reveal what advantages might be utilized in younger ages to strengthen sport performance. No gender differences were found in sport performance; while age showed significant difference. The findings indicated differences of the investigated psychological variables by age and gender. Regression analyses were employed to test how psychological factors predict successful sport performance. The analyses strengthened the role of age and gender specific factors that should be considered during sport psychological counseling. The benefits should be highlighted in young age in order to ensure more successful performance in adulthood.

Intersections of Gay and Bisexual Identity with Fatness

This thesis examines the intersections of gay and bisexual identity with body size, or fatness. Gay and bisexual identity and fatness are marginalized social identities that seem to be incompatible (Bond, 2013). While a sense of collective identity with the gay and bisexual community has been shown to be a protective factor against internalized homonegativity in gay and bisexual men (Halpin & Allen, 2004), the degree to which this protective factor persists for fat people in an anti-fat environment like the gay and bisexual community (Wrench & Knapp, 2008) has not been explored. This intersection of identities and anti-fat culture seemed to suggest there might be a relationship between fatness and internalized homophobia. Fatness did not moderate the relationship between sense of belonging to the gay and bisexual community and internalized homonegativity, but a significant positive relationship was found between belongingness to the gay and bisexual community and body shame.

The clinical significance of 15q11.2 BP1-BP2 duplications: - Where do we stand?

The 15q11.2-q13 region has been well characterized, being associated with a range of syndromatic copy number variants (CNVs), and comprises five established break points sites (BP1 to BP5). While the clinical effect for BP1-BP3, BP2-BP3 and BP4-BP5 CNVs is well established, the same cannot be said for BP1-BP2 CNVs. Recently the 15q11.2 BP1-BP2 deletion has been reviewed, emerging as a microdeletion syndrome with low penetrance and variable expressivity being the CNV frequently inherited from a healthy parent. This microdeletion is considered to be a risk factor for several neurodevelopment disorders. For the reciprocal duplication the picture has been less conclusive. Aiming for a better understanding of the clinical significance of this CNV, we collected patients with intellectual disability and/or other clinical features, referred for microarray testing, gathering clinical details for the ones with the duplication. Data was collected from two genetic laboratories. With a total of 1545 patients, we identified eleven carrying the duplication at 15q11.2 BP1-BP2. It was possible to assess inheritance in only four cases, all inherited from a healthy parent. All patients presented intellectual disability,and facial dysmorphism was the second most common feature observed. Microcephaly, autism, congenital abnormalities, dystonia and cataplexy where reported individually. The magnitude of the effect of 15q11.2 duplication remains elusive, and the outcome unclear, posing a major challenge to genetic counseling. Nevertheless, we expect the collection of more of these cases will establish this gain, as it happened with the reciprocal deletion, as a microduplication syndrome with low penetrance and variable expressivity.

A gestão da pessoa com hipertensão arterial na unidade móvel de saúde

Enquadramento: A gestão da doença, designadamente da hipertensão arterial (HTA) através do apoio à auto-gestão, aconselhamento motivacional, acesso à informação resultam em maior adesão terapêutica. Objetivos: Identificar os fatores que determinam a adesão ao tratamento na pessoa com HTA numa amostra comunitária. Metodologia: Estudo transversal, descritivo-correlacional, com amostra de 235 hipertensos (63,8% do género feminino), idade média 75 ± 8,14 anos, 62,6% casados e a maioria com o 1.º ciclo de escolaridade. Recorremos ao questionário com variáveis sociodemográficas, dietéticas, clínicas, motivacionais, relacionadas com os profissionais e serviços de saúde, Escala de Apgar Familiar, Questionário de Dependência Alcoólica, Questionário Internacional de Atividade Física, Questionário de Determinação da Saúde Nutricional, Escala de Autocuidado com a Hipertensão, Questionário de Crenças Sobre a Doença, Escala de Crenças Acerca dos Medicamentos, Escala de Satisfação dos Utentes com os Cuidados de Enfermagem na Unidade Móvel de Saúde, Questionário abreviado da Perceção do Cliente sobre o Ambiente Terapêutico, Questionário de Autorregulação, Escala de Competência Percebida e Escala de Medida de Adesão aos Tratamentos para colheita de dados. Resultados: A pressão arterial estava controlada em 34,5% da amostra, 28,2% homens e 38% mulheres. A MAT revelou um mínimo de 3,86 e um máximo de 6 com uma média de 5,66±0,49. As variáveis preditoras da adesão foram: controlo pessoal (p=0,005), identidade (p=0,000), ambiente terapêutico (p=0,001), alimentação geral (p=0,041), atividade física (p=0,007) e toma de medicamentos (p=0,000). Conclusões: Compreender os fatores envolvidos na gestão do tratamento permite perceber como podem os enfermeiros contribuir para melhorar a adesão ao regime terapêutico. Palavras-chave: Hipertensão arterial, gestão da doença crónica, adesão ao tratamento e adultos.

Desenvolvimento de protótipo de aplicativo móvel em Android® para o controle e acompanhamento nutricional da saúde óssea em mulheres menopáusicas

Following a drop in estrogen in the period of menopause some women begin to lose bone mass more than 1% per year reaching the end of five years with loss greater than 25%. In this regard, factors such as older age, low calcium intake and premature menopause favor the onset of osteoporosis. Preventive methods such as nutritional counseling to a proper diet and the support of technology through applications that assess dietary intake are essential. Thus, this study aimed to develop an application for Android® platform focused on the evaluation of nutritional and organic conditions involved in bone health and risks for developing osteoporosis in postmenopausal women. To achieve this goal we proceeded to a study of 72 women aged 46-79 years, from the physical exercise for bone health of the Laboratory for Research in Biochemistry and Densitometry the Federal Technological University of Paraná program. Data were collected in the second half of 2014 through tests Bone Densitometry and Body Composition, Blood Tests, Anthropometric data and Nutrition Assessment. The study included women with a current diagnosis of osteopenia or osteoporosis primary, aged more than 45 years postmenopausal. For the assessment of bone mineral density and body composition used the device Absorptiometry Dual Energy X-ray (DXA) brand Hologic Discovery TM Model A. For anthropometric assessment was included to body mass, height, abdominal circumference, Waist circumference and hip circumference. The instrument for assessing food consumption was used Recall 24 hours a day (24HR). The estimated intake of energy and nutrients was carried from the tabulation of the food eaten in the Software Diet Pro 4®. In a sub sample of 30 women with osteopenia / osteoporosis serum calcium and alkaline phosphatase tests were performed. The results demonstrated a group of women (n = 30) average calcium intake of 570mg / day (± 340). The analysis showed a mean serum calcium within the normal range (10,20mg / dl ± 0.32) and average values and slightly increased alkaline phosphatase (105.40 U / L ± 23.70). Furthermore, there was a significant correlation between the consumption of protein and the optimal daily intake of calcium (0.375 p-value 0.05). Based on these findings, we developed an application early stage in Android® platform operating system Google®, being called OsteoNutri. We chose to use Java Eclipse® where it was executed Android® version of the project; choice of application icons and setting the visual editor for building the application layouts. The DroidDraw® was used for development of the three application GUIs. For practical tests we used a cell compatible with the version that was created (4.4 or higher). The prototype was developed in conjunction with the Group and Instrumentation Applications Development (GDAI) of the Federal Technological University of Paraná. So this application can be considered an important tool in dietary control, allowing closer control consumption of calcium and dietary proteins.

Navegando a tempestade num copo de álcool: locus de controlo de saúde e depressão em alcoólicos em tratamento

Dissertação de Mestrado apresentada no Instituto Superior de Psicologia Aplicada para obtenção de grau de Mestre na especialidade de Psicologia Clínica

Decyzje karierowe wobec destabilizujących praktyk rynku pracy

This article addresses the issue of a practical implementation of careers, which should be placed on sound career counseling. In the background of individual solutions concerning a career there is the destabilization and the practice of the labor market. The text takes into consideration issues related to the functioning of individuals and organizations on the labor market. The challenge for the organization is presented as a framework for employees’ competence requirements. Analysis of these issues leads to a conclusion in search of attributes of modern careers.

Diagnóstico molecular de Dislipidémias Familiares

The familial dyslipidaemia are underdiagnosed and so it is necessary an effort from all health professional to identify these high risk patients in order to provide the best counseling and treatment to reduce their elevated cardiovascular(hepatic/neurologic) risk. A novel diagnosis method (by NGS) is being implemented in order to study a larger panel of genes for dyslipidaemia to improve patient diagnosis

Accessing dental anxiety online support groups: An exploratory qualitative study of motives and experiences

Objectives: In recent years, Internet access has grown markedly providing individuals with new opportunities for online information retrieval, psychological advice and support. The objectives of the present study were to explore the context through which dentally anxious individuals access an online support group and the nature of their online experiences. Methods: An online questionnaire was completed by 143 individuals who accessed the Dental Fear Central online support group bulletin board. Qualitative analysis was conducted on the responses. Results: Analysis revealed three emergent themes which reflected the motives and experiences of individuals: ‘Searching for help’, ‘Sharing fears’ and ‘I feel empowered’. Conclusion: This exploratory study suggests that for most individuals accessing this online support group was a positive and beneficial experience. Practice Implications: Online support groups may represent a convenient and beneficial tool that may assist certain individuals to confront their debilitating anxiety/phobia and successfully receive dental care.

Quando suspeitar de uma dislipidemia

The familial dyslipidaemia are under diagnosed and so it is necessary an effort from all health professional to identify these high risk patients in order to provide the best counseling and treatment to reduce their elevated cardiovascular/hepatic/neurologic risk. A novel diagnosis method (by NGS) is being implemented in order to study a larger panel of genes for dyslipidaemia to improve patient diagnosis

Social support in cyberspace: A content analysis of communication within a Huntington’s Disease online support group

Objective: Huntington’s Disease (HD) is an inherited disorder, characterised by a progressive degeneration of the brain. Due to the nature of the symptoms, the genetic element of the disease and the fact that there is no cure, HD patients and those in their support network often experience considerable stress and anxiety. With an expansion in Internet access, individuals affected by HD have new opportunities for information retrieval and social support. The aim of this study is to examine the provision of social support in messages posted to a HD online support group bulletin board. Methods: In total, 1313 messages were content analysed using a modified version of the Social Support Behaviour Code developed by Cutrona & Suhr (1992). Results: The analysis indicates that group members most frequently offered informational (56.2%) and emotional support (51.9%) followed by network support (48.4%) with esteem support (21.7%) and tangible assistance (9.8%) least frequently offered. Conclusion: This study suggests that exchanging informational and emotional support represents a key function of this online group. Practice implications: Online support groups provide a unique opportunity for health professionals to learn about the experiences and views of individuals affected by HD and explore where and why gaps may exist between evidence-based medicine and consumer behaviour and expectations.

Der Beitrag der Erziehungsberatung zur Förderung der Gesundheit von Kindern und Jugendlichen

Die Expertise für den 13. Kinder- und Jugendbericht gibt einen Überblick über Versorgungsstrukturen und Inanspruchnahme bei psychischen Störungen von Kindern und Jugendlichen. Insbesondere werden auf der Basis einer aktuellen empirischen Untersuchung „gesundheitsbezogene Anlässe“ bei der Inanspruchnahme von Erziehungsberatung beschrieben. Ein eigenes Thema bildet die ICD-10-Kategorisierbarkeit von Problemen in der Erziehungsberatung. Dabei wird der diagnostische und therapeutische Ansatz der Erziehungsberatung in Abgrenzung zur Kinder- und Jugendpsychiatrie dargestellt. Auf der Grundlage der genannten Untersuchung werden schließlich die einzelfallbezogene und die einzelfallübergreifende Zusammenarbeit der Erziehungsberatung mit dem Gesundheitswesen beschrieben. Abschließend wird die Entwicklung der Erziehungsberatung in den letzten Jahren nach Inanspruchnahme, Personal und Kosten skizziert.

TESTING THE JOINT ROLES OF CAREER DECISION SELF-EFFICACY AND PERSONALITY TRAITS IN THE PREDICTION OF CAREER INDECISION

Career decision-making self-efficacy and the Big Five traits of neuroticism, extraversion, and conscientiousness were examined as predictors of career indecision in a sample of 181 undergraduates. Participants completed an online survey. I predicted that the Big Five traits and career decision-making self-efficacy would (a) interrelate moderately and (b) each relate significantly and moderately to career indecision. In addition, I predicted that career decision-making self-efficacy would partially mediate the relationships between the Big Five traits and career indecision, while the Big Five traits were predicted to moderate the relationship between career decision-making self-efficacy and career indecision. Finally, I predicted that career decision-making self-efficacy would account for a greater amount of unique variance in career indecision than the Big Five traits. All predicted correlations were significant. Career decision-making self-efficacy fully mediated the relationship of Extraversion to career indecision and partially mediated the relationships of Neuroticism and Conscientiousness to career indecision. Conscientiousness was found to moderate the relationship of career decision-making self-efficacy to career indecision such that the negative relation between self-efficacy and career indecision was stronger in the presence of high conscientiousness. This study builds upon existing research on the prediction of career indecision by examining potential mediating and moderating relationships.