938 resultados para Family-history


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Purpose: The purpose of the study was to examine Jamaican adolescents in a school setting, for risk factors of type 2 diabetes mellitus (T2DM) and cardiovascular diseases (CVDs). Methods: A descriptive epidemiological cross-sectional study of 276 Jamaican adolescents (112 males and 164 females) ages 14-19 years (15.6±1.2), randomly selected from grades 9-12 from ten high schools on the island. Thirteen risk factors were examined. Risk factors were compared with BMI levels and demographics. A sub-study validated finger prick testing of fasting blood glucose, total cholesterol, and HbAlc versus venous testing in 59 subjects. Results: Prevalence of overweight was 33.0% (n=91) with mean BMI of 23.74±7.74. Approximately 66.7% of subjects reported > 3 risk factors. The number of T2DM and CVDs risk factors increased for subjects with BMI above 25. One third of the overweight subjects were classified with the metabolic syndrome. High BMI was associated with high waist circumference (r =.767, p (r = .180, p.05). Percentage bias for the methods of blood testing met the reference standards for fasting blood glucose but not for total cholesterol and HbAlc. Bland Altman tests of agreement between the two methods indicated good agreement for all three tests. Conclusion: Jamaican adolescents are at high risk for T2DM and CVDs as seen in other study populations. Effective programs to prevent T2DM and CVDs are needed. Family history of diseases, anthropometric measures, and gender identified more subjects at risk than did the biochemical measures. Comparison between finger prick and venous blood methods suggested that finger prick is an adequate method to screen for risk factors in children and adolescents.

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The purpose of this study was to investigate women's knowledge and attitudes regarding genital human papillomavirus (n=100). Using a descriptive design, the Health Education Questionnaire was administered to 100 female patients (Mean Age = 33, SD = 7.17) at a physicians office in South Florida. The results indicated a lack of knowledge regarding genital human papillomavirus with 21 patients (21%) reported having knowledge and 79 (79%) having never heard of this disease. In addition, the group familiar with genital human papillomavirus also possessed a low level of knowledge with only 57% acknowledging an association of genital human papillomavirus and cervical cancer, 52% aware that a pap smear can detect the virus, 42% knowing that antibiotics can not treat the disease and 57% aware that it is not associated with a family history. An association was found between attitudes and health seeking behaviors. Subjects stating that they would take all measures to prevent genital human papillomavirus, were more likely to have a pap smear within the last year (Chi-square (1) = 4.33, p < .05). Higher levels of education and income were associated with increased knowledge regarding genital human papillomavirus when subjects were categorized according to sociodemographic characteristic (Chi-square (1) =9.45, p < .05; Chi-square (1) = 6.75, p < .05). There was no significant correlation between knowledge and ethnicity, marital status or age. Findings indicated the need for improved education and promotion of positive attitudes regarding human papillomaviurs in order to improve health seeking behaviors among women.

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Except the non-melanoma skin tumors, colorectal cancer is the second most common in the Southeastern Region of Brazil, the third most common in the Southern and Central Regions. It is also the forth most common in the Northern Region and it is the fifth one in the Northeastern. To assess pathological and clinical variables of colorectal Cancer is crucial to know the possible conclusions for the survival of patients and point out the characteristics in the progress of tumor, such as the profile of tumor invasion and its angiogenesis. This work focuses on analyzing clinically and pathologically some settings in colorectal cancer patients (CRC) in the city of Natal and its countryside through those variables as parameters of prognosis and determine the level of protein expression, for instance: E-cadherin (E-cad), beta- -catenin (β-cat), galectin-3 (gal-3), matrix metalloproteinases (MMP) 2 and 9 and vascular-endothelial growth factor alpha (α VEGF) in the tumor tissues. A retrospective study was done in colorectal cancer cases in the regions of Rio Grande do Norte state from 1995 to 2005, specifically in Natal city/RN/Brazil. The pathological and clinical variables, such as: age, gender, ethnicity, lifestyle, family history, the location of the primary tumor, level of differentiation, TDM staging, modified Dukes’, treatment and survival were analyzed. The pathological and clinical data were collected from medical records through a specific form and were filed on Excel. A total of 534 patients were selected from the Pathology Department file in this institution, however, 176 patients were excluded. 358 patients were included for Epidemiological analysis and its clinical and pathological correlations were selected. 180 patients were also selected for histological and immunohistochemical studies. The tumor progression of these selected proteins mentioned before were analyzed. The Paraffin blocks of these samples were treated by Microarray Tissue technique and its blades subjected to immunohistochemistry to test the intensity of these proteins in tumor tissues. The results of this analysis were correlated with clinicopathologic variables of patients. Statistical analysis using the chi-frame Pearson test and analysis of midlife by Kaplan-Meier curve was also utilized. P values < 0.05 were considered statistically significant. The average age of our sample was 58.8 years and 51.7 % were female. Alcohol consumption has increased by 1.71 time the risk of death by CCR (p = 0.034) and tobacco consumption increased 2.7 times the chance of developing tumors of high TNM stage (p = 0.001). Cancer patients had a family history of 3,833 times the chance of developing the CCR (p = 0.002). The expression of MMP-2 showed a significant association with tumors of high TNM stage (p <0.046) and mortality (p = 0.041). The α VEGF expression had statistically significant correlation with high TNM stage (p <0.009), degree of cell indifferentiation (p <0.025) and mortality (p <0.035). Expressions of E-cadherin and beta-catetina demonstrated tumor linked to high TNM stage (p = 0.0001) and Dukes› modified (p = 0.05), lesions in the rectum (p = 0.03 and p = 0.007, respectively), smoking (p = 0.05) and indifferentiation (p = 0.001). The expression of Gal-3 showed statistical significance with high TNM stage of patients (p = 0.01), smokers (p = 0.01), alcohol drinking (p = 0.03), indifferentiation (p = 0.0001) and mortality (p = 0.0001). Based on the results, therefore, we could realize that lifestyle and family history had correlation in the CCR prognosis, as well as MMP-2 expression, MMP-9, VEGF alpha, E-cadherin, Beta-catenin and Galectin-3 were important prognostic markers in tumor progression in colorectal cancer.

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We examined facilitators and barriers to adoption of genomic services for colorectal care, one of the first genomic medicine applications, within the Veterans Health Administration to shed light on areas for practice change. We conducted semi-structured interviews with 58 clinicians to understand use of the following genomic services for colorectal care: family health history documentation, molecular and genetic testing, and genetic counseling. Data collection and analysis were informed by two conceptual frameworks, the Greenhalgh Diffusion of Innovation and Andersen Behavioral Model, to allow for concurrent examination of both access and innovation factors. Specialists were more likely than primary care clinicians to obtain family history to investigate hereditary colorectal cancer (CRC), but with limited detail; clinicians suggested templates to facilitate retrieval and documentation of family history according to guidelines. Clinicians identified advantage of molecular tumor analysis prior to genetic testing, but tumor testing was infrequently used due to perceived low disease burden. Support from genetic counselors was regarded as facilitative for considering hereditary basis of CRC diagnosis, but there was variability in awareness of and access to this expertise. Our data suggest the need for tools and policies to establish and disseminate well-defined processes for accessing services and adhering to guidelines.

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In May 2013, Angelina Jolie revealed that because she had a family history of breast and ovarian cancer and carried a rare BRCA gene mutation, she had undergone a preventive double mastectomy. Media coverage has been extensive around the world, including in Russia, not an English-language country, where all global news is inevitably filtered by translation. After examining the reactions of Russian mass media and members of the public to Jolie’s disclosure, I consider what transformations have occurred with Jolie’s message in the process of cross-cultural transfer. I explore the mass media portrayal of Jolie’s announcement, laypersons’ immediate and prolonged reactions, and the reflections of patients involved directly in the field of hereditary breast cancer. To my knowledge, this multifaceted and bilingual project is the first conceptualization of Jolie’s story as it has been translated in a different sociocultural environment. I start with examination of offline and online publications that appeared in Russia within two months after Jolie’s announcement. In this part of my analysis, I conceptualize the representation of Jolie’s case in Russian mass media and grasp what sociocultural waves were generated by this case among general lay audiences. Another part of my study contains the results of qualitative in-depth interviews. Eight women with a family history of hereditary breast cancer were recruited to participate in the research. The findings represent Jolie’s case through the eyes of Russian women with the same gene mutation as Jolie. Consolidating my findings, I argue that Jolie’s announcement was misinterpreted and misrepresented by Russian mass media, as well as misunderstood by a considerable part of the media audience. Jolie’s perspective on hereditary breast cancer mostly remained unheard among members of the Russian public. I make suggestions about the reasons for such a phenomenon, and demonstrate how Jolie’s case is implicated in politics, economics, and the culture of contemporary Russia.

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INTRODUCTION: Congenital erythrocytosis is by definition present from birth. Patients frequently present in childhood or as young adults and a family history may be present. The erythrocytosis can be primary where there is a defect in the erythroid compartment of secondary where increased erythropoietin production produced due to the defect leads to an erythrocytosis.

MATERIAL AND METHODS: Primary causes include erythropoietin receptor mutations. Congenital secondary causes include mutations in the genes involved in the oxygen-sensing pathway and haemoglobins with abnormal oxygen affinity. Investigations for the cause include an erythropoietin level, oxygen dissociation curve, haemoglobin electrophoresis and sequencing for known gene variants.

RESULTS: The finding of a known or new molecular variant confirms a diagnosis of congenital erythrocytosis. A congenital erythrocytosis may be an incidental finding but nonspecific symptoms are described. Major thromboembolic events have been noted in some cases. Low-dose aspirin and venesection are therapeutic manoeuvres which should be considered in managing these patients.

CONCLUSIONS: Rare individuals presenting often at a young age may have a congenital erythrocytosis. Molecular investigation may reveal a lesion. However, in the majority, currently no defect is identified.

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The aim of this thesis was to identify genetic factors involved in frontotemporal lobar degeneration (FTLD), a neurodegenerative disorder clinically characterised by a progressive change in personality, behaviour and language. FTLD is a genetically complex disorder and a positive family history is found in up to 40% of the cases. In 10-20% of the familial cases the disease can be explained by mutations in the gene encoding the microtubule associated protein tau (MAPT). In the first study we describe the clinical and neuropathological features of a Finnish family with FTLD caused by a mutation in MAPT. We also provide evidence that the pathogenic mechanism of this mutation is through altered splicing of MAPT transcripts. Recently, mutations in the gene encoding progranulin (PGRN) were identified as a major cause of FTLD. In the second study we describe a Swedish family with FTLD caused by a frameshift mutation in PGRN. We provide a clinical and neuropathological description of the family, as well as evidence that the pathogenicity of this mutation is through nonsense-mediated decay of the mutant mRNA transcripts and PGRN haploinsufficiency. In the third study we describe a novel PGRN splice site mutation and a previously described PGRN frameshift mutation, found in a mutation screen of 51 FTLD patients. We describe the clinical and neuropathological characteristics of the mutation carriers and demonstrate that haploinsufficiency is the pathogenic mechanism of the two mutations. In the fourth study we investigate the prevalence of PGRN and MAPT gene dosage alterations in 39 patients with FTLD. No gene dosage alterations were identified, indicating that variations in copy number of the PGRN and MAPT genes are not a common cause of disease, at least not in this FTLD patient collection.

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Introduction. Familial Atypical Multiple Mole-Melanoma Syndrome (FAMMM) is an autosomal dominant genodermatosis characterized by the presence of a high number of dysplastic nevi and family history of melanoma or pancreatic cancer. Melanomas in FAMMM patients tend to occur at a younger age, although they are clinically similar to sporadic melanomas in terms of overall survival. Case report. A 45 year-old woman with a family history of melanoma, a type II phototype and numerous (>100) nevi was admitted to our Department of Dermatology and Plastic Surgery. Over the past years, the patient underwent several surgical operations to remove pigmented lesions and two are dysplastic nevi. Since 1995, she underwent surgery to remove four melanomas. She is followed for skin examinations including dermoscopy. Conclusion. Identifying high-risk patients for melanoma represents a primary objective for the specialists that are involved in the management of this disease, especially in order to enact all the necessary surveillance and follow-up strategies.

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Introduction. The IGF system has recently been shown to play an important role in the regulation of breast tumor cell proliferation. However, also breast density is currently considered as the strongest breast cancer risk factor. It is not yet clear whether these factors are interrelated and if and how they are influenced by menopausal status. The purpose of this study was to examine the possible effects of IGF-1 and IGFBP-3 and IGF-1/IGFBP-3 molar ratio on mammographic density stratified by menopausal status. Patients and methods. A group of 341 Italian women were interviewed to collect the following data: family history of breast cancer, reproductive and menstrual factors, breast biopsies, previous administration of hormonal contraceptive therapy, hormone replacement therapy (HRT) in menopause and lifestyle information. A blood sample was drawn for determination of IGF-1, IGFBP-3 levels. IGF-1/ IGFBP-3 molar ratio was then calculated. On the basis of recent mammograms the women were divided into two groups: dense breast (DB) and non-dense breast (NDB). Student’s t-test was employed to assess the association between breast density and plasma level of IGF-1, IGFBP-3 and molar ratio. To assess if this relationship was similar in subgroups of pre- and postmenopausal women, the study population was stratified by menopausal status and Student’s t-test was performed. Finally, multivariate analysis was employed to evaluate if there were confounding factors that might influence the relationship between growth factors and breast density. Results. The analysis of the relationship between mammographic density and plasma level of IGF-1, IGFBP-3 and IGF-1/ IGFBP-3 molar ratio showed that IGF-1 levels and molar ratio varied in the two groups resulting in higher mean values in the DB group (IGF-1: 109.6 versus 96.6 ng/ml; p= 0.001 and molar ratio 29.4 versus 25.5 ng/ml; p= 0.001) whereas IGFBP-3 showed similar values in both groups (DB and NDB). Analysis of plasma level of IGF-1, IGFBP-3 and IGF-1/IGFBP-3 molar ratio compared to breast density after stratification of the study population by menopausal status (premenopausal and postmenopausal) showed that there was no association between the plasma of growth factors and breast density, neither in premenopausal nor in postmenopausal patients. Multivariate analysis showed that only nulliparity, premenopausal status and body mass index (BMI) are determinants of breast density. Conclusions. Our study provides a strong evidence of a crude association between breast density and plasma levels of IGF-1 and molar ratio. On the basis of our results, it is reasonable to assume that the role of IGF-1 and molar ratio in the pathogenesis of breast cancer might be mediated through mammographic density. IGF-1 and molar ratio might thus increase the risk of cancer by increasing mammographic density.

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A collaboration between dot.rural at the University of Aberdeen and the iSchool at Northumbria University, POWkist is a pilot-study exploring potential usages of currently available linked datasets within the cultural heritage domain. Many privately-held family history collections (shoebox archives) remain vulnerable unless a sustainable, affordable and accessible model of citizen-archivist digital preservation can be offered. Citizen-historians have used the web as a platform to preserve cultural heritage, however with no accessible or sustainable model these digital footprints have been ad hoc and rarely connected to broader historical research. Similarly, current approaches to connecting material on the web by exploiting linked datasets do not take into account the data characteristics of the cultural heritage domain. Funded by Semantic Media, the POWKist project is investigating how best to capture, curate, connect and present the contents of citizen-historians’ shoebox archives in an accessible and sustainable online collection. Using the Curios platform - an open-source digital archive - we have digitised a collection relating to a prisoner of war during WWII (1939-1945). Following a series of user group workshops, POWkist is now connecting these ‘made digital’ items with the broader web using a semantic technology model and identifying appropriate linked datasets of relevant content such as DBPedia (an archived linked dataset of Wikipedia) and Ordnance Survey Open Data. We are analysing the characteristics of cultural heritage linked datasets, so that these materials are better visualised, contextualised and presented in an attractive and comprehensive user interface. Our paper will consider the issues we have identified, the solutions we are developing and include a demonstration of our work-in-progress.

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African Americans are disproportionately affected by colorectal cancer (CRC) incidence and mortality. CRC early detection leads to better treatment outcomes and, depending on the screening test, can prevent the development of CRC. African Americans, however, are screened less often than Whites. Aspects of decision making (e.g., decisional conflict, decision self-efficacy) can impact decision making outcomes and may be influenced by social determinants of health, including health literacy. However the relationship between social determinants of health and indicators of decision making in this population is not fully understood. Additionally, individuals have a choice between different CRC screening tests and an individual’s desire to use a particular screening test may be associated with social determinants of health such as health literacy. This study aimed to examine the relationship between social determinants of health and indicators of decision making for CRC screening among African Americans. A total of 111 participants completed a baseline and 14-month follow-up survey assessing decisional conflict, decision self-efficacy, decisional preference (shared versus informed decision making), and CRC test preference. Health literacy was negatively associated with decisional conflict and positively associated with decision self-efficacy (ps < .05). Individuals who were unemployed or working part-time had significantly greater decisional conflict than individuals working full-time (ps < .05). Individuals with a first-degree family history of CRC had significantly lower decision self-efficacy than individuals without a family history (p < .05). Women were significantly more likely to prefer making a shared decision rather than an informed decision compared to men (p < .05). Lastly, previous CRC screening behavior was significantly associated with CRC test preference (e.g., individuals previously screened using colonoscopy were significantly more likely to prefer colonoscopy for their next screening test; ps < .05). These findings begin to identify social determinants of health (e.g., health literacy, employment) that are related to indicators of decision making for CRC among African Americans. Furthermore, these findings suggest further research is needed to better understand these relationships to help with the future development and improvement of interventions targeting decision making outcomes for CRC screening in this population.

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Introdução – A frequência de dislipidemia em crianças e adolescentes tem vindo a aumentar rapidamente nos últimos anos, estando o seu aparecimento associado a fatores genéticos e ambientais. Este indicador, associado a outras doenças como a obesidade, constituem a síndrome metabólica e são considerados fatores de risco para doença cardiovascular e diabetes, que quando presentes na infância podem conduzir precocemente ao aparecimento destas doenças. Objetivos – Avaliar o perfil de indicadores de saúde de crianças no início de um Programa de Educação Contínua; Verificar os efeitos do Programa de Educação Contínua aplicado durante 36 meses (ginástica funcional, brincadeiras de rua e das aulas de natação), sobre os resultados dos exames iniciais de colesterol, triglicerídeos e do IMC. Métodos - Estudo quantitativo, exploratório e descritivo de corte transversal, realizado entre 2012 e 2015 numa amostra não probabilística por conveniência de 165 crianças, 70,0% da população-alvo. As crianças tinham entre 7 a 12 anos de idade, 40,59% entre 11 e 12 anos e 54% eram do sexo feminino. Eram beneficiárias de um plano de saúde que integrava um programa de intervenção (educação contínua e atividade física), designado Crescendo com Saúde e foram selecionadas através de critérios, como: dislipidemia (colesterol total e/ou triglicerídeos elevados), sobrepeso e/ou obesidade, e história familiar de HAS e DM. Os dados clínicos foram obtidos na consulta de enfermagem, utilizando-se a recolha de sangue para dosemanento do perfil lipídico no início do programa e a cada 6 meses e avaliação do IMC na fase inicial do programa e semanalmente. Para classificação do estado nutricional foram utilizados os pontos de corte da OMS (2007). Resultados – no início do programa 69% das crianças apresentavam hipercolesterolémia, 32% aumento do colesterol, 45% tinham excesso de peso (sobrepeso e obesidade) e 12% risco de sobrepeso. Após o programa de intervenção, das 53% crianças que participaram de forma regular, 29% apresentaram redução do colesterol, 16% dos triglicerídeos e o excesso de peso reduziu em 9%, aumentando contudo o risco de sobrepeso para 22%. Das que participaram de forma irregular, apenas 3% reduziram o perfil lipídico e 1% o estado nutricional. Conclusões – O programa de intervenção permitiu uma redução dos fatores de risco de doença metabólica e permitiu melhorar os hábitos das crianças estudadas e suas famílias. Estes resultados comprovam a eficácia a curto e médio prazo dos programas de intervenção na comunidade, e realçam o papel das intervenções preventivas de educação contínua e de atividade física regular, para o processo de redução dos indicadores de risco metabólico desde a infância. Palavra-chave: Crianças; Perfil lipídico; Obesidade; Programa de intervenção .

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Background: Allergic disorders are not usually life-threatening conditions but they impair the person’s ability to function. It thus adversely affects the psychological wellbeing and quality of life. These implications of allergic disorders can be minimized if strategies are planned for its early identification followed by appropriate interventions. Objectives: To find out the prevalence and risk factors of allergic disorders. Methods: Data was collected by house to house survey among participants aged 18 years and above using a standardized allergy assessment questionnaire. Results: Mean age of the 400 participants was 42.8±14.7 years. Majority 105(26.2%) were in the age group 36 to 45 years. Majority were females 287(71.7%) and were house wives 217(54.2%). Majority of participants were of upper socio economic class 98(44.7%) out of 219 and majority were from urban areas 326(81.5%). The prevalence of allergy among participants was found to be 115(28.7%). Out of these 115, 37(32.2%) had possibility of allergy, 60(52.2%) had probability of allergy and the rest 18(15.6%) had very high likelihood for allergy. People residing in semi urban areas had increased risk of allergy (p=0.024) than those from urban areas. The prevalence of asthma was 30(7.5%) and skin allergy was 23(5.8%). Most common precipitating factors for allergy were dust exposure 103(25.8%) followed by seasonal changes 71(17.8%). Family history of allergy was associated with allergy among participants (p<0.001). Usage of firewood was associated with symptoms of respiratory allergy among participants (p=0.01). Conclusion: The study revealed some important determinants of allergic disorders which have important implications to frame appropriate prevention and health educational strategies.

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Este relatório de estágio baseia-se na descrição de algumas atividades desenvolvidas no âmbito do controlo de peso, nomeadamente na prevenção e tratamento de indivíduos com a condição de excesso de peso e obesidade. Fez-se uma análise estatística de forma a comparar as diferenças de peso, de Índice de Massa Corporal (IMC) e de percentagem de Massa Gorda (% MG) ao longo do tempo nas pessoas que treinam num health club. Comparou-se a perda de peso e de % MG nos indivíduos que afirmaram possuir “história familiar de obesidade” e/ou “problemas de saúde”, assim como a diferença de peso e de % MG com o número de treinos semanais. Por fim, elaborou-se uma proposta de um programa de controlo de peso com o objetivo de diminuir a prevalência do número de sócios que têm excesso de peso ou obesidade adaptada a esse health club. Com este intuito foram efetuados dois estágios em duas empresas distintas: Clínica Metabólica, em Oeiras, onde foi observada a dinâmica de uma equipa multidisciplinar e como esta influencia o cliente no controlo do seu peso; e no health club – Club L (Villa-Park), em Lisboa – Amadora, onde foi abordada a mesma temática por uma equipa de fisiologistas do exercício. Nesta última empresa foi facilitado o acesso à base de dados para serem analisados estatisticamente alguns dados e utilizados para a elaboração da análise estatística. Analisaram-se dois grupos distintos para efeitos de análise de controlo de peso: o Grupo A, observado durante cerca de 3 meses em 2 momentos diferentes; e o Grupo B observado durante cerca de 6 meses em 3 momentos. Verificou-se que em ambos os grupos, e em ambos os géneros, a média do peso, do IMC e da % MG diminuiu ao longo do tempo, enquanto o número médio de treinos semanais aumentou. Concluiu-se que o grupo de indivíduos que afirmou não ter “história familiar de obesidade” demonstrou uma maior tendência para a perda de peso comparativamente aos que afirmaram ter. Enquanto os indivíduos que afirmaram ter “problemas de saúde” apresentaram uma maior tendência para a perda de peso comparativamente aos que negaram esses problemas. A proposta do programa de controlo de peso apresentada teve em conta uma equipa multidisciplinar visto ser atualmente aquela que ostenta resultados com mais sucesso, no que diz respeito à prevenção e tratamento do peso excessivo. No entanto, não houve oportunidade de colocar esta proposta em prática no health club em questão.