A case of myoepithelial carcinoma displaying biallelic inactivation of the tumour suppressor gene APC in a patient with familial adenomatous polyposis

Familial adenomatous polyposis (FAP) is an autosomal dominant disorder caused by mutation of the APC gene. It is characterised by the appearance of hundreds to thousands of colorectal adenomas in adolescence and the subsequent development of colorectal cancer. Various extracolonic malignancies are associated with FAP, including desmoids and neoplasms of the stomach, duodenum, pancreas, liver, and brain. We present a family affected by FAP with an exon 14 APC mutation displaying two rare extracolonic lesions, a hepatoblastoma and a myoepithelial carcinoma. The hepatoblastoma was found in a male patient aged 2 years. The second lesion, a myoepithelial carcinoma of the right cheek, was found in a female patient aged 14 years. Inactivation of the normal APC allele was demonstrated in this lesion by loss of heterozygosity analysis, thus implicating APC in the initiation or progression of this neoplasm. This is the first reported case of this lesion in a family affected by FAP.

Heritability of adult body height: A comparative study of twin cohorts in eight countries

A major component of variation in body height is due to genetic differences, but environmental factors have a substantial contributory effect. In this study we aimed to analyse whether the genetic architecture of body height varies between affluent western societies. We analysed twin data from eight countries comprising 30,111 complete twin pairs by using the univariate genetic model of the Mx statistical package. Body height and zygosity were self-reported in seven populations and measured directly in one population. We found that there was substantial variation in mean body height between countries; body height was least in Italy (177 cm in men and 163 cm in women) and greatest in the Netherlands (184 cm and 171 cm, respectively). In men there was no corresponding variation in heritability of body height, heritability estimates ranging from 0.87 to 0.93 in populations under an additive genes/unique environment (AE) model. Among women the heritability estimates were generally lower than among men with greater variation between countries, ranging from 0.68 to 0.84 when an additive genes/shared environment/unique environment (ACE) model was used. In four populations where an AE model fit equally well or better, heritability ranged from 0.89 to 0.93. This difference between the sexes was mainly due to the effect of the shared environmental component of variance, which appears to be more important among women than among men in our study populations. Our results indicate that, in general, there are only minor differences in the genetic architecture of height between affluent Caucasian populations, especially among men.

Aspectos da amizade de adolescentes portadores de diabetes e câncer

Este trabalho analisa alguns aspectos das amizades de adolescentes acometidos por diabetes e câncer, incluindo o histórico da reação ao diagnóstico, além do companheirismo, auto-revelação e intimidade, apoio social, conflito e expectativas da amizade. Três participantes com diabetes e três amigos, e três adolescentes que tiveram câncer e três amigos, foram entrevistados. Essas amizades se assemelham, em grande parte, àquelas não marcadas por uma doença crônica, especialmente em relação ao companheirismo e à presença de conflitos. Por outro lado, o diabetes ou o câncer parecem afetar aspectos da amizade, principalmente na consideração do apoio social, que se dá forma assimétrica. A auto-revelação e a intimidade sofrem restrições em relação a conteúdos ligados à enfermidade. As expectativas de amizade dão ênfase ao apoio social. Os dados ainda sugerem que afastamento ou aproximação dos amigos pode resultar da identificação de uma doença como câncer ou diabetes.

O ter e o ser : representações sociais da adolescência entre adolescentes de inserção urbana e rural

Fundamentando-se na Teoria das Representações Sociais este trabalho analisa como adolescentes de diferentes inserções sociais representam a adolescência e dão sentido ao período em que vivem. Participaram desse estudo 360 adolescentes entre as idades de 14 e 23 anos: 180 (90 do sexo feminino e 90 do sexo masculino) residentes em região urbana, estudantes de escola particular, localizada em bairro considerado de classe média alta e alta, e 180 (90 do sexo feminino e 90 do sexo masculino) residentes em uma região rural e que estudam em escola agrotécnica pública. Os resultados indicaram que a adolescência para os dois grupos está ancorada na percepção tradicional da adolescência como fase universal e transitória. Ocorre, entretanto, uma diferenciação de acordo com os elementos culturais presentes nos grupos. Dessa forma, verificamos formas diferentes de vivenciar a adolescência, corroborando assim, a tendência mais recente que propõe a adolescência como uma condição construída historicamente.

Aspectos psicossociais associados à percepção da dor pós-operatória em indivíduos submetidos a cirurgia coronária

Objectivo: Identificar os factores psicossociais que influenciam a percepção da dor pós-operatória em doentes submetidos a cirurgia de revascularização do miocárdio (CRM). Material e Métodos: Estudo exploratório correlacional de 91 doentes (71 homens e 20 mulheres) submetidos a CRM (pontagem aortocoronária) por esternotomia). A idade média era de 63,8 ± 9,6 anos (entre 39 e 84). Foram utilizados os seguintes instrumentos: Escala Analógica Visual às 24, 48 e 96 horas do pós-operatório; Questionário de Caracterização Demográfica; Mental Health Inventory de 5 itens; Percepção de Saúde Geral (SF-36); Escala de Expectativas de Dor; Escala de Percepção de Apoio; Escala de Expectativas de Auto-eficácia; Satisfação com o tratamento, médicos e enfermeiros (American Pain Society Questionnaire) aplicados às 96 horas após a cirurgia. Resultados: Os doentes que apresentaram expectativas elevadas de dor, percepcionaram maior apoio, apresentaram níveis elevados de auto-eficácia para lidar com a dor ou, se pertenciam ao sexo masculino, sentiram menos dor. De igual modo, os doentes que apresentaram melhor saúde mental, percepcionaram a sua saúde como boa e os doentes que expressaram maior satisfação com o tratamento sentiram menos dor. A dor não foi influenciada pela idade, grau de escolaridade ou pela satisfação com a conduta de médicos e enfermeiros. Conclusão: Após as primeiras 48 horas do pós-operatório, a experiência de dor é influenciada por factores psicossociais, em oarticular pela expectativa de dor, expectativa de auto-eficácia, apoio percebido, percepção da saúde geral, percepção de saúde mental e satisfação com o tratamento para a dor. Perante os resultados, evidencia-se a necessidade de conjugar conhecimentos no sentido de dar respostas mais alargadas e de carácter multidisciplinar no tratamento da dor pós-operatória em CRM devendo, a par de outros aspectos, focar-se na gestão das expectativas dos doentes. ABSTRACT - Objective: To identify the psychological factors that influence post-surgery pain perception in patients undergoing coronary artery bypass graft surgery (CABG). Methods: This was an exploratory correlational study of 91 patients (71 men and 20 women) who underwent CABG (aortocoronary anastomosis) by sternotomy. Mean age was 63.8 ± 9.6 years (between 39 and 84). The following instruments were used: visual analogical scales at 24, 48 and 96 hours of post-surgery; demographic characteristics survey; pain expectations scale; perceived support scale; self-efficacy scale, Mental Inventory (5 items); health perception scale; and satisfaction with treatment, doctors and nurses (American Pain Society questionnaire) at 96 hours after surgery. Results: Patients who had presented high expectations of pain, perceived more support, presented high levels of self-efficacy to deal with pain or were male, felt less pain. Furthermore, patients who presented better mental health, perceived their general health as being good, or expressed greater satisfaction with treatment, felt less pain. Pain was not influenced by age, level of education or satisfaction with doctors and nurses. Conclusion: After the first 48 hours following surgery, the pain experience is influenced by psychosocial factors, in particular by expectation of pain and of self-efficacy, perceived support, perception of general and mental health, and satisfaction with pain treatment. The results confirm the need to bring together different kinds of knowledge for a broad, multidisciplinary approach to postoperative CABG pain treatment, focusing, along with other aspects, on management of patients’ expectations.

Programas de self-management em pacientes com DPOC: uma revisão sistemática

Introdução: Programas de self-management têm como objectivo habilitar os pacientes com estratégias necessárias para levar a cabo procedimentos específicos para a patologia. A última revisão sistemática sobre selfmanagament em DPOC foi realizada em 2007, concluindo-se que ainda não era possível fornecer dados claros e suficientes acerca de recomendações sobre a estrutura e conteúdo de programas de self-managament na DPOC. A presente revisão tem o intuito de complementar a análise da revisão anterior, numa tentativa de inferir a influência do ensino do self-management na DPOC. Objectivos: verificar a influência dos programas de self-management na DPOC, em diversos indicadores relacionados com o estado de saúde do paciente e na sua utilização dos serviços de saúde. Estratégia de busca: pesquisa efectuada nas bases de dados PubMed e Cochrane Collaboration (01/01/2007 – 31/08/2010). Palavras-chave: selfmanagement education, self-management program, COPD e pulmonary rehabilitation. Critérios de Selecção: estudos randomizados sobre programas de selfmanagement na DPOC. Extracção e Análise dos Dados: 2 investigadores realizaram, independentemente, a avaliação e extracção de dados de cada artigo. Resultados: foram considerados 4 estudos randomizados em selfmanagement na DPOC nos quais se verificaram benefícios destes programas em diversas variáveis: qualidade de vida a curto e médio prazo, utilização dos diferentes recursos de saúde, adesões a medicação de rotina, controle das exacerbações e diminuição da sintomatologia. Parece não ocorrer alteração na função pulmonar e no uso de medicação de emergência, sendo inconclusivo o seu efeito na capacidade de realização de exercício. Conclusões: programas de self-management aparentam ter impacto positivo na qualidade de vida, recurso a serviços de saúde, adesão à medicação, planos de acção e níveis de conhecimento da DPOC. Discrepâncias nos critérios de selecção das amostras utilizadas, períodos de seguimento desiguais, consistência das variáveis mensuradas, condicionam a informação disponibilizada sobre este assunto.

Tracking of physical activity from adolescence to adulthood: a population-based study

OBJECTIVE: To assess the association between regular physical activity in adolescence and leisure-time physical activity in adulthood, with emphasis on gender differences. METHODS: A population-based cross-sectional study was carried out in Pelotas, Southern Brazil, in 2003. A representative sample of households was selected in multiple stages and subjects aged 20-59 years were interviewed. Leisure-time physical activity was evaluated using the International Physical Activity Questionnaire. Data on adolescent physical activity were based on subjects' recall. RESULTS: Of 2,577 subjects interviewed, 27.5% were classified as adequately active, and 54.9% reported regular physical activity in adolescence. Subjects who engaged in regular physical activity during adolescence were more likely to be adequately active in adulthood (adjusted prevalence ratio 1.42; 95% CI: 1.23; 1.65). This effect was stronger in women (adjusted prevalence ratio: 1.51; 95% CI: 1.22; 1.86) than men (adjusted prevalence ratio: 1.35; 95% CI: 1.10; 1.67). CONCLUSIONS: Promoting physical activity in school age may be a successful intervention against the epidemic of adult inactivity. Although women were less likely to report regular physical activity in adolescence, the effect of this experience on adult behavior was stronger than in men.

Influência de um programa de exercícios específicos em estudantes de violino

Introdução: A elevada prevalência de problemas musculosqueléticos relacionados com a performance musical (PMRPM) em estudantes universitários de música, sobretudo violinistas, justifica uma abordagem preventiva junto destes, nomeadamente, através do exercício. Este deve ser específico e baseado nos padrões de movimento durante a performance musical do violinista. Objetivos: verificar a influência de um programa de exercícios específicos (PEE) nos sintomas relacionados com a prática musical, na incapacidade funcional e na autoperceção da performance física e musical, em estudantes universitários de violino. Métodos: estudo quase-experimental baseado num estudo piloto com 24 estudantes para pesquisa da sintomatologia, e 4 para análise cinemática e cinética do gesto técnico. No estudo principal participaram 22 violinistas divididos equitativamente, e por disponibilidade, entre grupo experimental (GE) e grupo de controlo (GC). O GE realizou o PEE bissemanalmente, durante 8 semanas. No momento inicial e após 8 semanas, os participantes preencheram: Questionário de Performance (incluiu Escala Visual Analógica), Disabilities of the Arm, Shoulder and Hand, Oswestry Disability Index versão 2.0, Pain Catastrophizing Scale e Escala de Borg Modificada. Resultados: do estudo piloto constatou-se que os sintomas mais frequentes, dor e fadiga, localizavam-se na cintura escapular, ombros e coluna lombar; os ombros aparentavam maior risco de PMRPM; era necessário aumentar a endurance dos mobilizadores dos membros superiores (principalmente deltóide) e relaxar os estabilizadores da coluna cervical (sobretudo trapézio superior). No final do PEE, o GE apresentou significativamente melhores pontuações do que o GC na percentagem de violinistas com “dor na coluna lombar esquerda” (p=0,007), frequência da dor (U=8,5; W=29,5; p=0,016), número de locais com sintomas (U=18; W=84; p=0,003) e amplificação (U=26; W=92; p=0,021). Conclusão: Um PEE pode produzir efeitos positivos na diminuição dos sintomas relacionados com a prática musical e incapacidade funcional, e na melhoria de alguns parâmetros da performance física autoreportada, em estudantes universitários de violino.

Promoção no ponto de venda: percepções e comportamentos do consumidor

Este estudo enquadra-se no âmbito do Marketing e Comportamento do Consumidor e tem como tema Promoção no Ponto de Venda. Esta investigação tem como objectivo conhecer a percepção e comportamento de grupos de consumidores face a promoções no ponto de venda. O desenvolvimento deste projecto procurou encontrar resposta para os objectivos de investigação propostos através da realização de um inquérito por questionário. Toda a investigação empírica teve por base os resultados obtidos através de 156 questionários online a consumidores, maiores de 18 anos, de super e hipermercados e centros comerciais. Foi utilizada uma amostra por conveniência, para a qual foi enviado questionário online através de email e redes sociais. Realizou-se então este estudo e os resultados demonstraram que as promoções continuam a motivar o consumo e a despoletar a compra imediata e em maior quantidade. Estas conclusões são diferenciadas face às categorias de produto, com maior interesse por parte do consumidor em relação às promoções nos bens essenciais e moda, e face às tipologias de promoção, cuja preferência de promoção são as que têm incidência no preço. No nosso estudo encontramos quatro segmentos de consumidores, que de uma forma global registam auto percepção de consumidores inteligentes, que procuram com a promoções optimizar a relação qualidade preço, e que são pouco impulsivos no consumo. Concluímos que as promoções no ponto de venda são técnicas de marketing em que os gestores de marketing devem continuar a apostar pois é um factor critico de sucesso no incremento de vendas.

Cyberbullying and students' engagement in school : a literature review

Bullying is one of today’s biggest problems. Bullying is the intentional repeated aggression directed at a target individual. There is substantial evidence of the negative psychological and health outcomes associated with bullying. It occurs very frequently, especially in adolescence, and action is needed to lessen its causes and alleviate its consequences. Research has shown that behavior problems usually interact with other risk and protection factors, as well as with factors of etiological development. This book discusses the prevalence, psychological impacts and intervention strategies of bullying.

Factors associated to quality of life in active elderly

OBJECTIVE: To analyze whether quality of life in active, healthy elderly individuals is influenced by functional status and sociodemographic characteristics, as well as psychological parameters. METHODS: Study conducted in a sample of 120 active elderly subjects recruited from two open universities of the third age in the cities of São Paulo and São José dos Campos (Southeastern Brazil) between May 2005 and April 2006. Quality of life was measured using the abbreviated Brazilian version of the World Health Organization Quality of Live (WHOQOL-bref) questionnaire. Sociodemographic, clinical and functional variables were measured through crossculturally validated assessments by the Mini Mental State Examination, Geriatric Depression Scale, Functional Reach, One-Leg Balance Test, Timed Up and Go Test, Six-Minute Walk Test, Human Activity Profile and a complementary questionnaire. Simple descriptive analyses, Pearson's correlation coefficient, Student's t-test for non-related samples, analyses of variance, linear regression analyses and variance inflation factor were performed. The significance level for all statistical tests was set at 0.05. RESULTS: Linear regression analysis showed an independent correlation without colinearity between depressive symptoms measured by the Geriatric Depression Scale and four domains of the WHOQOL-bref. Not having a conjugal life implied greater perception in the social domain; developing leisure activities and having an income over five minimum wages implied greater perception in the environment domain. CONCLUSIONS: Functional status had no influence on the Quality of Life variable in the analysis models in active elderly. In contrast, psychological factors, as assessed by the Geriatric Depression Scale, and sociodemographic characteristics, such as marital status, income and leisure activities, had an impact on quality of life.

O papel das competências emocionais no processo de autoeficácia académica em crianças do 1.º Ciclo do Ensino Básico

Dissertação de Mestrado, Psicologia da Educação, especialidade em Contextos Educativos, 3 de Março de 2016, Universidade dos Açores.

Self-Scheduling for energy and spinning reserve of wind/CSP plants by a MILP approach

This paper is on the self-scheduling for a power producer taking part in day-ahead joint energy and spinning reserve markets and aiming at a short-term coordination of wind power plants with concentrated solar power plants having thermal energy storage. The short-term coordination is formulated as a mixed-integer linear programming problem given as the maximization of profit subjected to technical operation constraints, including the ones related to a transmission line. Probability density functions are used to model the variability of the hourly wind speed and the solar irradiation in regard to a negative correlation. Case studies based on an Iberian Peninsula wind and concentrated solar power plants are presented, providing the optimal energy and spinning reserve for the short-term self-scheduling in order to unveil the coordination benefits and synergies between wind and solar resources. Results and sensitivity analysis are in favour of the coordination, showing an increase on profit, allowing for spinning reserve, reducing the need for curtailment, increasing the transmission line capacity factor. (C) 2014 Elsevier Ltd. All rights reserved.

Factors associated with dietary supplement use by people who exercise at gyms

OBJECTIVE To assess the factors associated with the use of dietary supplements by people who exercise at gyms.METHODS A cross-sectional study with a sample defined by convenience, considering the number of gyms registered in the Conselho Regional de Educação Física (Regional Council of Physical Education) of Sao Luis, MA, Northeastern Brazil, from July 2011 to July 2012. The final sample comprised 723 individuals who exercise at gyms. The dependent variable was supplement use, and the explanatory variables were length of time and motivation of the physical exercises, duration, goal and self-perception of training, weekly frequency of gym attendance, sex, age, educational attainment, self-perception of body weight, smoking and self-perception of diet. The association between variables was analysed by hierarchical Poisson regression based on a theoretical model.RESULTS Supplement use was reported by 64.7% of the participants. Most of the sample was male (52.6%). The most frequent age group was 20 to 39 years (74.4%). Most participants (46.1%) had been exercising for over a year. The following variables were associated with supplement use: self-perceiving body weight as below ideal (p < 0.001), smoking (p < 0.001), exercising for 7 to 12 months (p = 0.028) or more than one year (p < 0.001), spending more than two hours at the gym (p = 0.051), and perceiving training as moderate (p = 0.024) or intense (p = 0.001).CONCLUSIONS The use of supplements lacks proper professional guidance, being motivated by individuals unsatisfied with their low body weight and who perceive their workout as intense, which raises the need for monitoring this population.

Access to childbirth care by adolescents and young people in the Northeastern region of Brazil

ABSTRACT OBJECTIVE To identify the factors that interfere with the access of adolescents and young people to childbirth care for in the Northeast region of Brazil. METHODS Cross-sectional study with 3,014 adolescents and young people admitted to the selected maternity wards to give birth in the Northeast region of Brazil. The sample design was probabilistic, in two stages: the first corresponded to the health establishments and the second to women who had recently given birth and their babies. The data was collected by means of interviews and consulting the hospital records, from pre-tested electronic form. Descriptive statistics were used for the univariate analysis, Pearson’s Chi-square test for the bivariate analysis and multiple logistic regressions for the multivariate analysis. Sociodemographic variables, obstetrical history, and birth care were analyzed. RESULTS Half of the adolescents and young people interviewed had not been given guidance on the location that they should go to when in labor, and among those who had, 23.5% did not give birth in the indicated health service. Furthermore, one third (33.3%) had to travel in search of assisted birth, and the majority (66.7%) of the postpartum women came to maternity by their own means. In the bivariate analysis, the variables marital status, paid work, health insurance, number of previous pregnancies, parity, city location, and type of health establishment showed a significant association (p < 0.20) with inadequate access to childbirth care. The multivariate analysis showed that married adolescents and young people (p < 0.015), with no health insurance (p < 0.002) and from the countryside (p < 0.001) were more likely to have inadequate access to childbirth care. CONCLUSIONS Adolescents and young women, married, without health insurance, and from the countryside are more likely to have inadequate access to birth care. The articulation between outpatient care and birth care can improve this access and, consequently, minimize the maternal and fetal risks that arise from a lack of systematic hospitalization planning.